Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000343508
Querying Taster for transcript #2: ENST00000297405
Querying Taster for transcript #3: ENST00000455883
Querying Taster for transcript #4: ENST00000352409
MT speed 0 s - this script 3.195098 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CSMD3polymorphism_automatic2.23334803195474e-06simple_aaeaffectedI219Msingle base exchangers2219898show file
CSMD3polymorphism_automatic0.097530096358319simple_aaeaffectedI179Msingle base exchangers2219898show file
CSMD3polymorphism_automatic0.097530096358319simple_aaeaffectedI219Msingle base exchangers2219898show file
CSMD3polymorphism_automatic0.097530096358319simple_aaeaffectedI219Msingle base exchangers2219898show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999997766651968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:114186003T>CN/A show variant in all transcripts   IGV
HGNC symbol CSMD3
Ensembl transcript ID ENST00000455883
Genbank transcript ID NM_052900
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.657A>G
cDNA.686A>G
g.263326A>G
AA changes I219M Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 219
frameshift no
known variant Reference ID: rs2219898
databasehomozygous (C/C)heterozygousallele carriers
1000G60911161725
ExAC97231332123044
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.921
0.0590.996
(flanking)3.2621
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased263325wt: 0.24 / mu: 0.46wt: CCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAG
mu: CCACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAG		 gcat|AGCC
Donor increased263330wt: 0.31 / mu: 0.42wt: TAGCCAATTCAGTTA
mu: TGGCCAATTCAGTTA		 GCCA|attc
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      219YILDGHPQLTCIANSVNTASWDFP
mutated  all conserved    219YILDGHPQLTCMANSVNTASWDF
Ptroglodytes  not conserved  ENSPTRG00000020517  527YVLQGAKSITCQRIAEVFAAWSD
Mmulatta  not conserved  ENSMMUG00000007342  527YVLQGAKSITCQRIAEVFAAWTD
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000022311  527YVLQGAKSITCQRIAEVFAAWSD
Ggallus  not conserved  ENSGALG00000016111  188GSKSITCQRIAEVFAAWSD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000025787  n/a
protein features
start (aa)end (aa)featuredetails 
643630TOPO_DOMExtracellular (Potential).lost
176237DOMAINSushi 1.lost
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
241241DISULFIDBy similarity.might get lost (downstream of altered splice site)
241345DOMAINCUB 2.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
361361CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
409409CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
484545DOMAINSushi 2.might get lost (downstream of altered splice site)
486486DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510CONFLICTF -> L (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
512512DISULFIDBy similarity.might get lost (downstream of altered splice site)
526526DISULFIDBy similarity.might get lost (downstream of altered splice site)
543543DISULFIDBy similarity.might get lost (downstream of altered splice site)
548548DISULFIDBy similarity.might get lost (downstream of altered splice site)
548659DOMAINCUB 3.might get lost (downstream of altered splice site)
574574DISULFIDBy similarity.might get lost (downstream of altered splice site)
662719DOMAINSushi 3.might get lost (downstream of altered splice site)
664664DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
704704DISULFIDBy similarity.might get lost (downstream of altered splice site)
717717DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
721829DOMAINCUB 4.might get lost (downstream of altered splice site)
724724CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
726726CONFLICTT -> A (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
823823CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
832893DOMAINSushi 4.might get lost (downstream of altered splice site)
834834DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
875875DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
895895DISULFIDBy similarity.might get lost (downstream of altered splice site)
8951003DOMAINCUB 5.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
966966CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
977977CONFLICTS -> I (in Ref. 3; BAB67787).might get lost (downstream of altered splice site)
10081065DOMAINSushi 5.might get lost (downstream of altered splice site)
10101010DISULFIDBy similarity.might get lost (downstream of altered splice site)
10361036DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10631063DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671067DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671177DOMAINCUB 6.might get lost (downstream of altered splice site)
10921092CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10931093DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11711171CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11801239DOMAINSushi 6.might get lost (downstream of altered splice site)
11821182DISULFIDBy similarity.might get lost (downstream of altered splice site)
12081208DISULFIDBy similarity.might get lost (downstream of altered splice site)
12221222DISULFIDBy similarity.might get lost (downstream of altered splice site)
12371237DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411241DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411349DOMAINCUB 7.might get lost (downstream of altered splice site)
12671267DISULFIDBy similarity.might get lost (downstream of altered splice site)
12801280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13521412DOMAINSushi 7.might get lost (downstream of altered splice site)
13541354DISULFIDBy similarity.might get lost (downstream of altered splice site)
13811381DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14101410DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141523DOMAINCUB 8.might get lost (downstream of altered splice site)
14411441DISULFIDBy similarity.might get lost (downstream of altered splice site)
15261586DOMAINSushi 8.might get lost (downstream of altered splice site)
15281528DISULFIDBy similarity.might get lost (downstream of altered splice site)
15361536CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15541554DISULFIDBy similarity.might get lost (downstream of altered splice site)
15681568DISULFIDBy similarity.might get lost (downstream of altered splice site)
15841584DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881588DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881696DOMAINCUB 9.might get lost (downstream of altered splice site)
15911591CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16141614DISULFIDBy similarity.might get lost (downstream of altered splice site)
16991760DOMAINSushi 9.might get lost (downstream of altered splice site)
17011701DISULFIDBy similarity.might get lost (downstream of altered splice site)
17091709CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17271727DISULFIDBy similarity.might get lost (downstream of altered splice site)
17411741DISULFIDBy similarity.might get lost (downstream of altered splice site)
17581758DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621762DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621870DOMAINCUB 10.might get lost (downstream of altered splice site)
17811781CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17881788DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761937DOMAINSushi 10.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19181918DISULFIDBy similarity.might get lost (downstream of altered splice site)
19291929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19351935DISULFIDBy similarity.might get lost (downstream of altered splice site)
19391939DISULFIDBy similarity.might get lost (downstream of altered splice site)
19392047DOMAINCUB 11.might get lost (downstream of altered splice site)
19651965DISULFIDBy similarity.might get lost (downstream of altered splice site)
20192019CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20502109DOMAINSushi 11.might get lost (downstream of altered splice site)
20522052DISULFIDBy similarity.might get lost (downstream of altered splice site)
20782078DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21042104CONFLICTI -> T (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
21072107DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112111DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112219DOMAINCUB 12.might get lost (downstream of altered splice site)
21372137DISULFIDBy similarity.might get lost (downstream of altered splice site)
21552155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22222281DOMAINSushi 12.might get lost (downstream of altered splice site)
22242224DISULFIDBy similarity.might get lost (downstream of altered splice site)
22502250DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832283DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832394DOMAINCUB 13.might get lost (downstream of altered splice site)
22862286CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22912291CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23092309DISULFIDBy similarity.might get lost (downstream of altered splice site)
23242324CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23932454DOMAINSushi 13.might get lost (downstream of altered splice site)
23952395DISULFIDBy similarity.might get lost (downstream of altered splice site)
24232423DISULFIDBy similarity.might get lost (downstream of altered splice site)
24372437DISULFIDBy similarity.might get lost (downstream of altered splice site)
24522452DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562456DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562567DOMAINCUB 14.might get lost (downstream of altered splice site)
24842484DISULFIDBy similarity.might get lost (downstream of altered splice site)
24952495CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25372537CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25672629DOMAINSushi 14.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25962596DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102610DISULFIDBy similarity.might get lost (downstream of altered splice site)
26272627DISULFIDBy similarity.might get lost (downstream of altered splice site)
26302691DOMAINSushi 15.might get lost (downstream of altered splice site)
26322632DISULFIDBy similarity.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26742674DISULFIDBy similarity.might get lost (downstream of altered splice site)
26892689DISULFIDBy similarity.might get lost (downstream of altered splice site)
26922756DOMAINSushi 16.might get lost (downstream of altered splice site)
26942694DISULFIDBy similarity.might get lost (downstream of altered splice site)
27112711CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27252725DISULFIDBy similarity.might get lost (downstream of altered splice site)
27392739DISULFIDBy similarity.might get lost (downstream of altered splice site)
27422742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27542754DISULFIDBy similarity.might get lost (downstream of altered splice site)
27572814DOMAINSushi 17.might get lost (downstream of altered splice site)
27592759DISULFIDBy similarity.might get lost (downstream of altered splice site)
27852785DISULFIDBy similarity.might get lost (downstream of altered splice site)
27992799DISULFIDBy similarity.might get lost (downstream of altered splice site)
28122812DISULFIDBy similarity.might get lost (downstream of altered splice site)
28152872DOMAINSushi 18.might get lost (downstream of altered splice site)
28172817DISULFIDBy similarity.might get lost (downstream of altered splice site)
28432843DISULFIDBy similarity.might get lost (downstream of altered splice site)
28572857DISULFIDBy similarity.might get lost (downstream of altered splice site)
28622862CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28702870DISULFIDBy similarity.might get lost (downstream of altered splice site)
28732930DOMAINSushi 19.might get lost (downstream of altered splice site)
28752875DISULFIDBy similarity.might get lost (downstream of altered splice site)
29012901DISULFIDBy similarity.might get lost (downstream of altered splice site)
29152915DISULFIDBy similarity.might get lost (downstream of altered splice site)
29282928DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312992DOMAINSushi 20.might get lost (downstream of altered splice site)
29322932CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29332933DISULFIDBy similarity.might get lost (downstream of altered splice site)
29522952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29632963DISULFIDBy similarity.might get lost (downstream of altered splice site)
29772977DISULFIDBy similarity.might get lost (downstream of altered splice site)
29902990DISULFIDBy similarity.might get lost (downstream of altered splice site)
29933050DOMAINSushi 21.might get lost (downstream of altered splice site)
29952995DISULFIDBy similarity.might get lost (downstream of altered splice site)
30213021DISULFIDBy similarity.might get lost (downstream of altered splice site)
30353035DISULFIDBy similarity.might get lost (downstream of altered splice site)
30483048DISULFIDBy similarity.might get lost (downstream of altered splice site)
30543111DOMAINSushi 22.might get lost (downstream of altered splice site)
30563056DISULFIDBy similarity.might get lost (downstream of altered splice site)
30823082DISULFIDBy similarity.might get lost (downstream of altered splice site)
30963096DISULFIDBy similarity.might get lost (downstream of altered splice site)
30993099CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31093109DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123170DOMAINSushi 23.might get lost (downstream of altered splice site)
31143114DISULFIDBy similarity.might get lost (downstream of altered splice site)
31413141DISULFIDBy similarity.might get lost (downstream of altered splice site)
31553155DISULFIDBy similarity.might get lost (downstream of altered splice site)
31583158CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31673167CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31683168DISULFIDBy similarity.might get lost (downstream of altered splice site)
31713230DOMAINSushi 24.might get lost (downstream of altered splice site)
31733173DISULFIDBy similarity.might get lost (downstream of altered splice site)
31943194CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31993199DISULFIDBy similarity.might get lost (downstream of altered splice site)
32083208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32153215DISULFIDBy similarity.might get lost (downstream of altered splice site)
32183218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32283228DISULFIDBy similarity.might get lost (downstream of altered splice site)
32313288DOMAINSushi 25.might get lost (downstream of altered splice site)
32333233DISULFIDBy similarity.might get lost (downstream of altered splice site)
32593259DISULFIDBy similarity.might get lost (downstream of altered splice site)
32733273DISULFIDBy similarity.might get lost (downstream of altered splice site)
32763276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32863286DISULFIDBy similarity.might get lost (downstream of altered splice site)
32893346DOMAINSushi 26.might get lost (downstream of altered splice site)
32913291DISULFIDBy similarity.might get lost (downstream of altered splice site)
33173317DISULFIDBy similarity.might get lost (downstream of altered splice site)
33313331DISULFIDBy similarity.might get lost (downstream of altered splice site)
33443344DISULFIDBy similarity.might get lost (downstream of altered splice site)
33503408DOMAINSushi 27.might get lost (downstream of altered splice site)
33523352DISULFIDBy similarity.might get lost (downstream of altered splice site)
33643364CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
33793379DISULFIDBy similarity.might get lost (downstream of altered splice site)
33933393DISULFIDBy similarity.might get lost (downstream of altered splice site)
34063406DISULFIDBy similarity.might get lost (downstream of altered splice site)
34093468DOMAINSushi 28.might get lost (downstream of altered splice site)
34113411DISULFIDBy similarity.might get lost (downstream of altered splice site)
34383438DISULFIDBy similarity.might get lost (downstream of altered splice site)
34533453DISULFIDBy similarity.might get lost (downstream of altered splice site)
34663466DISULFIDBy similarity.might get lost (downstream of altered splice site)
35223522CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35293529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36123612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36183618CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36273627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36313651TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
36523707TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10617 / 10617
position (AA) of stopcodon in wt / mu AA sequence 3539 / 3539
position of stopcodon in wt / mu cDNA 10646 / 10646
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 30 / 30
chromosome 8
strand -1
last intron/exon boundary 10487
theoretical NMD boundary in CDS 10407
length of CDS 10617
coding sequence (CDS) position 657
cDNA position
(for ins/del: last normal base / first normal base)		 686
gDNA position
(for ins/del: last normal base / first normal base)		 263326
chromosomal position
(for ins/del: last normal base / first normal base)		 114186003
original gDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered gDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
original cDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered cDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
wildtype AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SNQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*
mutated AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCMA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SNQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*
speed 0.36 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.902469903641681 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:114186003T>CN/A show variant in all transcripts   IGV
HGNC symbol CSMD3
Ensembl transcript ID ENST00000343508
Genbank transcript ID NM_198124
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.537A>G
cDNA.708A>G
g.263326A>G
AA changes I179M Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 179
frameshift no
known variant Reference ID: rs2219898
databasehomozygous (C/C)heterozygousallele carriers
1000G60911161725
ExAC97231332123044
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.921
0.0590.996
(flanking)3.2621
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased263325wt: 0.24 / mu: 0.46wt: CCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAG
mu: CCACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAG		 gcat|AGCC
Donor increased263330wt: 0.31 / mu: 0.42wt: TAGCCAATTCAGTTA
mu: TGGCCAATTCAGTTA		 GCCA|attc
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      179YILDGHPQLTCIANSVNTASWDFP
mutated  all conserved    179YILDGHPQLTCMANSVNTASWDF
Ptroglodytes  all identical  ENSPTRG00000020517  219YILDGHPQLTCIAN
Mmulatta  all identical  ENSMMUG00000007342  219YILDGHPQLTCIAN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022311  219YILDGHPQLTCIAN
Ggallus  no alignment  ENSGALG00000016111  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000025787  n/a
protein features
start (aa)end (aa)featuredetails 
643630TOPO_DOMExtracellular (Potential).lost
176237DOMAINSushi 1.lost
204204DISULFIDBy similarity.might get lost (downstream of altered splice site)
218218DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
241241DISULFIDBy similarity.might get lost (downstream of altered splice site)
241345DOMAINCUB 2.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
361361CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
409409CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
484545DOMAINSushi 2.might get lost (downstream of altered splice site)
486486DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510CONFLICTF -> L (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
512512DISULFIDBy similarity.might get lost (downstream of altered splice site)
526526DISULFIDBy similarity.might get lost (downstream of altered splice site)
543543DISULFIDBy similarity.might get lost (downstream of altered splice site)
548548DISULFIDBy similarity.might get lost (downstream of altered splice site)
548659DOMAINCUB 3.might get lost (downstream of altered splice site)
574574DISULFIDBy similarity.might get lost (downstream of altered splice site)
662719DOMAINSushi 3.might get lost (downstream of altered splice site)
664664DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
704704DISULFIDBy similarity.might get lost (downstream of altered splice site)
717717DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
721829DOMAINCUB 4.might get lost (downstream of altered splice site)
724724CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
726726CONFLICTT -> A (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
823823CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
832893DOMAINSushi 4.might get lost (downstream of altered splice site)
834834DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
875875DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
895895DISULFIDBy similarity.might get lost (downstream of altered splice site)
8951003DOMAINCUB 5.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
966966CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
977977CONFLICTS -> I (in Ref. 3; BAB67787).might get lost (downstream of altered splice site)
10081065DOMAINSushi 5.might get lost (downstream of altered splice site)
10101010DISULFIDBy similarity.might get lost (downstream of altered splice site)
10361036DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10631063DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671067DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671177DOMAINCUB 6.might get lost (downstream of altered splice site)
10921092CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10931093DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11711171CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11801239DOMAINSushi 6.might get lost (downstream of altered splice site)
11821182DISULFIDBy similarity.might get lost (downstream of altered splice site)
12081208DISULFIDBy similarity.might get lost (downstream of altered splice site)
12221222DISULFIDBy similarity.might get lost (downstream of altered splice site)
12371237DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411241DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411349DOMAINCUB 7.might get lost (downstream of altered splice site)
12671267DISULFIDBy similarity.might get lost (downstream of altered splice site)
12801280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13521412DOMAINSushi 7.might get lost (downstream of altered splice site)
13541354DISULFIDBy similarity.might get lost (downstream of altered splice site)
13811381DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14101410DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141523DOMAINCUB 8.might get lost (downstream of altered splice site)
14411441DISULFIDBy similarity.might get lost (downstream of altered splice site)
15261586DOMAINSushi 8.might get lost (downstream of altered splice site)
15281528DISULFIDBy similarity.might get lost (downstream of altered splice site)
15361536CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15541554DISULFIDBy similarity.might get lost (downstream of altered splice site)
15681568DISULFIDBy similarity.might get lost (downstream of altered splice site)
15841584DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881588DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881696DOMAINCUB 9.might get lost (downstream of altered splice site)
15911591CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16141614DISULFIDBy similarity.might get lost (downstream of altered splice site)
16991760DOMAINSushi 9.might get lost (downstream of altered splice site)
17011701DISULFIDBy similarity.might get lost (downstream of altered splice site)
17091709CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17271727DISULFIDBy similarity.might get lost (downstream of altered splice site)
17411741DISULFIDBy similarity.might get lost (downstream of altered splice site)
17581758DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621762DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621870DOMAINCUB 10.might get lost (downstream of altered splice site)
17811781CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17881788DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761937DOMAINSushi 10.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19181918DISULFIDBy similarity.might get lost (downstream of altered splice site)
19291929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19351935DISULFIDBy similarity.might get lost (downstream of altered splice site)
19391939DISULFIDBy similarity.might get lost (downstream of altered splice site)
19392047DOMAINCUB 11.might get lost (downstream of altered splice site)
19651965DISULFIDBy similarity.might get lost (downstream of altered splice site)
20192019CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20502109DOMAINSushi 11.might get lost (downstream of altered splice site)
20522052DISULFIDBy similarity.might get lost (downstream of altered splice site)
20782078DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21042104CONFLICTI -> T (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
21072107DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112111DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112219DOMAINCUB 12.might get lost (downstream of altered splice site)
21372137DISULFIDBy similarity.might get lost (downstream of altered splice site)
21552155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22222281DOMAINSushi 12.might get lost (downstream of altered splice site)
22242224DISULFIDBy similarity.might get lost (downstream of altered splice site)
22502250DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832283DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832394DOMAINCUB 13.might get lost (downstream of altered splice site)
22862286CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22912291CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23092309DISULFIDBy similarity.might get lost (downstream of altered splice site)
23242324CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23932454DOMAINSushi 13.might get lost (downstream of altered splice site)
23952395DISULFIDBy similarity.might get lost (downstream of altered splice site)
24232423DISULFIDBy similarity.might get lost (downstream of altered splice site)
24372437DISULFIDBy similarity.might get lost (downstream of altered splice site)
24522452DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562456DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562567DOMAINCUB 14.might get lost (downstream of altered splice site)
24842484DISULFIDBy similarity.might get lost (downstream of altered splice site)
24952495CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25372537CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25672629DOMAINSushi 14.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25962596DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102610DISULFIDBy similarity.might get lost (downstream of altered splice site)
26272627DISULFIDBy similarity.might get lost (downstream of altered splice site)
26302691DOMAINSushi 15.might get lost (downstream of altered splice site)
26322632DISULFIDBy similarity.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26742674DISULFIDBy similarity.might get lost (downstream of altered splice site)
26892689DISULFIDBy similarity.might get lost (downstream of altered splice site)
26922756DOMAINSushi 16.might get lost (downstream of altered splice site)
26942694DISULFIDBy similarity.might get lost (downstream of altered splice site)
27112711CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27252725DISULFIDBy similarity.might get lost (downstream of altered splice site)
27392739DISULFIDBy similarity.might get lost (downstream of altered splice site)
27422742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27542754DISULFIDBy similarity.might get lost (downstream of altered splice site)
27572814DOMAINSushi 17.might get lost (downstream of altered splice site)
27592759DISULFIDBy similarity.might get lost (downstream of altered splice site)
27852785DISULFIDBy similarity.might get lost (downstream of altered splice site)
27992799DISULFIDBy similarity.might get lost (downstream of altered splice site)
28122812DISULFIDBy similarity.might get lost (downstream of altered splice site)
28152872DOMAINSushi 18.might get lost (downstream of altered splice site)
28172817DISULFIDBy similarity.might get lost (downstream of altered splice site)
28432843DISULFIDBy similarity.might get lost (downstream of altered splice site)
28572857DISULFIDBy similarity.might get lost (downstream of altered splice site)
28622862CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28702870DISULFIDBy similarity.might get lost (downstream of altered splice site)
28732930DOMAINSushi 19.might get lost (downstream of altered splice site)
28752875DISULFIDBy similarity.might get lost (downstream of altered splice site)
29012901DISULFIDBy similarity.might get lost (downstream of altered splice site)
29152915DISULFIDBy similarity.might get lost (downstream of altered splice site)
29282928DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312992DOMAINSushi 20.might get lost (downstream of altered splice site)
29322932CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29332933DISULFIDBy similarity.might get lost (downstream of altered splice site)
29522952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29632963DISULFIDBy similarity.might get lost (downstream of altered splice site)
29772977DISULFIDBy similarity.might get lost (downstream of altered splice site)
29902990DISULFIDBy similarity.might get lost (downstream of altered splice site)
29933050DOMAINSushi 21.might get lost (downstream of altered splice site)
29952995DISULFIDBy similarity.might get lost (downstream of altered splice site)
30213021DISULFIDBy similarity.might get lost (downstream of altered splice site)
30353035DISULFIDBy similarity.might get lost (downstream of altered splice site)
30483048DISULFIDBy similarity.might get lost (downstream of altered splice site)
30543111DOMAINSushi 22.might get lost (downstream of altered splice site)
30563056DISULFIDBy similarity.might get lost (downstream of altered splice site)
30823082DISULFIDBy similarity.might get lost (downstream of altered splice site)
30963096DISULFIDBy similarity.might get lost (downstream of altered splice site)
30993099CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31093109DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123170DOMAINSushi 23.might get lost (downstream of altered splice site)
31143114DISULFIDBy similarity.might get lost (downstream of altered splice site)
31413141DISULFIDBy similarity.might get lost (downstream of altered splice site)
31553155DISULFIDBy similarity.might get lost (downstream of altered splice site)
31583158CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31673167CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31683168DISULFIDBy similarity.might get lost (downstream of altered splice site)
31713230DOMAINSushi 24.might get lost (downstream of altered splice site)
31733173DISULFIDBy similarity.might get lost (downstream of altered splice site)
31943194CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31993199DISULFIDBy similarity.might get lost (downstream of altered splice site)
32083208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32153215DISULFIDBy similarity.might get lost (downstream of altered splice site)
32183218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32283228DISULFIDBy similarity.might get lost (downstream of altered splice site)
32313288DOMAINSushi 25.might get lost (downstream of altered splice site)
32333233DISULFIDBy similarity.might get lost (downstream of altered splice site)
32593259DISULFIDBy similarity.might get lost (downstream of altered splice site)
32733273DISULFIDBy similarity.might get lost (downstream of altered splice site)
32763276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32863286DISULFIDBy similarity.might get lost (downstream of altered splice site)
32893346DOMAINSushi 26.might get lost (downstream of altered splice site)
32913291DISULFIDBy similarity.might get lost (downstream of altered splice site)
33173317DISULFIDBy similarity.might get lost (downstream of altered splice site)
33313331DISULFIDBy similarity.might get lost (downstream of altered splice site)
33443344DISULFIDBy similarity.might get lost (downstream of altered splice site)
33503408DOMAINSushi 27.might get lost (downstream of altered splice site)
33523352DISULFIDBy similarity.might get lost (downstream of altered splice site)
33643364CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
33793379DISULFIDBy similarity.might get lost (downstream of altered splice site)
33933393DISULFIDBy similarity.might get lost (downstream of altered splice site)
34063406DISULFIDBy similarity.might get lost (downstream of altered splice site)
34093468DOMAINSushi 28.might get lost (downstream of altered splice site)
34113411DISULFIDBy similarity.might get lost (downstream of altered splice site)
34383438DISULFIDBy similarity.might get lost (downstream of altered splice site)
34533453DISULFIDBy similarity.might get lost (downstream of altered splice site)
34663466DISULFIDBy similarity.might get lost (downstream of altered splice site)
35223522CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35293529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36123612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36183618CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36273627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36313651TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
36523707TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11004 / 11004
position (AA) of stopcodon in wt / mu AA sequence 3668 / 3668
position of stopcodon in wt / mu cDNA 11175 / 11175
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 172 / 172
chromosome 8
strand -1
last intron/exon boundary 11016
theoretical NMD boundary in CDS 10794
length of CDS 11004
coding sequence (CDS) position 537
cDNA position
(for ins/del: last normal base / first normal base)		 708
gDNA position
(for ins/del: last normal base / first normal base)		 263326
chromosomal position
(for ins/del: last normal base / first normal base)		 114186003
original gDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered gDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
original cDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered cDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
wildtype AA sequence MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*
mutated AA sequence MWSWFLCWKP VQLDRQTASG FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER
NRIQIVFQSF ALEEEYDYLS LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA
VSAHGFKVYY EELQSSSCGN PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCMA
NSVNTASWDF PVPICRAEDA CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS
LIFTDFQMEE KYDYLEIEGS EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA
PYQGSSTLTH TTSTGELEEH NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS
LRNSGLDPNT SKDGLSPHPA DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK
LFPGKDNSNK FSILNEGGIK TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG
AKSITCQRIA EVFAAWSDHR PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA
VNTNKVIQIN FEEFDLEIGY DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH
LQTDESVGSV GFKVNYKEIE KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK
SIVCQENNQW SANIPICIFP CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH
LSFNDFDLES QFDFLAVKDG DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR
GFNITYNTFG HNECPDPGIP INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG
KVMWSGLIPK CGAPCGGHFS APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF
QTELNYDVLE VHDGPNLLSP LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY
ESVTVNTYSC LDPGIPVHGR RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL
PTCDALCGGD VRGPSGTILS PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY
LLITENGSFT QPLARLTGSD LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE
PCEDPGIPQY GSRIGFNFGI GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE
CGASATNNEG ILLSPNYPLN YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK
DKTTHLLGAF TGASMRGLTL SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP
QFGYKISDQG HFAGSTIIYG CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG
ESSGRILSPG YPFPYDNNLR CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM
LLKEISGSLI PEGIHSTLNI VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN
GDGREPGDTV VFQCDPGYEL QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL
SPNFPHPYPH SRDCDWTITV NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD
SKLPERIESS SNTMHLAFRS DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG
STVTYYCDAG YVLQGYSTLT CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK
NYSVGHNCVY SIAVPKEFVV FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL
PLSSGNQITI RFTSVGPITA KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV
LFDCNPGYIL HGSIAIRCET VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD
NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS
TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ
GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT
INLPIGFGVH LQFVNFSTET IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY
FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS
ALTCLHGVSR NWNHPLPRCE ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG
IYINFTVLQT EPIYDFITVW DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS
GFFVLSYHAY QLRVCQPPPP VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG
ERLQMDGAPP VCQVLCPANE LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV
EFFQTEKEFD VLQVYDGPNI QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF
RIRYIAFYCS TPESPPHGYI ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW
DAPVPACQAI SCGIPKAPTN GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW
SNHNKTPRCV VVTCPSINSF ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL
PNGTWSWRNE RPYCQIISCG ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL
SSGLWSESET RCLAGHCGIP ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD
HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ
WSHPPPMCKV VNCSDPGIPA NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN
GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH
WSGSQPHCSG DATGTCGDPG TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG
SWTGRQPECK AVQCGNPGTT ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT
WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT
WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS
GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS
SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS
GIQPECIPHS CKQPETPAHA NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT
GKVPICEAGS KILVKDPRPA LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS
FNASTGRVNA TLSNSNMELL LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF
VSAEPDGATY VFQGFIQGKD YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF
ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL
NTVCTMV*
speed 0.37 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.902469903641681 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:114186003T>CN/A show variant in all transcripts   IGV
HGNC symbol CSMD3
Ensembl transcript ID ENST00000297405
Genbank transcript ID NM_198123
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.657A>G
cDNA.902A>G
g.263326A>G
AA changes I219M Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 219
frameshift no
known variant Reference ID: rs2219898
databasehomozygous (C/C)heterozygousallele carriers
1000G60911161725
ExAC97231332123044
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.921
0.0590.996
(flanking)3.2621
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased263325wt: 0.24 / mu: 0.46wt: CCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAG
mu: CCACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAG		 gcat|AGCC
Donor increased263330wt: 0.31 / mu: 0.42wt: TAGCCAATTCAGTTA
mu: TGGCCAATTCAGTTA		 GCCA|attc
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      219YILDGHPQLTCIANSVNTASWDFP
mutated  all conserved    219YILDGHPQLTCMANSVNTASWDF
Ptroglodytes  all identical  ENSPTRG00000020517  219YILDGHPQLTCIANSVNTASWDF
Mmulatta  all identical  ENSMMUG00000007342  219YILDGHPQLTCIANSVNTASWDF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022311  219YILDGHPQLTCIANSVNTASWDF
Ggallus  no alignment  ENSGALG00000016111  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000025787  n/a
protein features
start (aa)end (aa)featuredetails 
643630TOPO_DOMExtracellular (Potential).lost
176237DOMAINSushi 1.lost
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
241241DISULFIDBy similarity.might get lost (downstream of altered splice site)
241345DOMAINCUB 2.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
361361CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
409409CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
484545DOMAINSushi 2.might get lost (downstream of altered splice site)
486486DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510CONFLICTF -> L (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
512512DISULFIDBy similarity.might get lost (downstream of altered splice site)
526526DISULFIDBy similarity.might get lost (downstream of altered splice site)
543543DISULFIDBy similarity.might get lost (downstream of altered splice site)
548548DISULFIDBy similarity.might get lost (downstream of altered splice site)
548659DOMAINCUB 3.might get lost (downstream of altered splice site)
574574DISULFIDBy similarity.might get lost (downstream of altered splice site)
662719DOMAINSushi 3.might get lost (downstream of altered splice site)
664664DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
704704DISULFIDBy similarity.might get lost (downstream of altered splice site)
717717DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
721829DOMAINCUB 4.might get lost (downstream of altered splice site)
724724CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
726726CONFLICTT -> A (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
823823CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
832893DOMAINSushi 4.might get lost (downstream of altered splice site)
834834DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
875875DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
895895DISULFIDBy similarity.might get lost (downstream of altered splice site)
8951003DOMAINCUB 5.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
966966CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
977977CONFLICTS -> I (in Ref. 3; BAB67787).might get lost (downstream of altered splice site)
10081065DOMAINSushi 5.might get lost (downstream of altered splice site)
10101010DISULFIDBy similarity.might get lost (downstream of altered splice site)
10361036DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10631063DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671067DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671177DOMAINCUB 6.might get lost (downstream of altered splice site)
10921092CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10931093DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11711171CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11801239DOMAINSushi 6.might get lost (downstream of altered splice site)
11821182DISULFIDBy similarity.might get lost (downstream of altered splice site)
12081208DISULFIDBy similarity.might get lost (downstream of altered splice site)
12221222DISULFIDBy similarity.might get lost (downstream of altered splice site)
12371237DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411241DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411349DOMAINCUB 7.might get lost (downstream of altered splice site)
12671267DISULFIDBy similarity.might get lost (downstream of altered splice site)
12801280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13521412DOMAINSushi 7.might get lost (downstream of altered splice site)
13541354DISULFIDBy similarity.might get lost (downstream of altered splice site)
13811381DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14101410DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141523DOMAINCUB 8.might get lost (downstream of altered splice site)
14411441DISULFIDBy similarity.might get lost (downstream of altered splice site)
15261586DOMAINSushi 8.might get lost (downstream of altered splice site)
15281528DISULFIDBy similarity.might get lost (downstream of altered splice site)
15361536CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15541554DISULFIDBy similarity.might get lost (downstream of altered splice site)
15681568DISULFIDBy similarity.might get lost (downstream of altered splice site)
15841584DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881588DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881696DOMAINCUB 9.might get lost (downstream of altered splice site)
15911591CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16141614DISULFIDBy similarity.might get lost (downstream of altered splice site)
16991760DOMAINSushi 9.might get lost (downstream of altered splice site)
17011701DISULFIDBy similarity.might get lost (downstream of altered splice site)
17091709CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17271727DISULFIDBy similarity.might get lost (downstream of altered splice site)
17411741DISULFIDBy similarity.might get lost (downstream of altered splice site)
17581758DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621762DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621870DOMAINCUB 10.might get lost (downstream of altered splice site)
17811781CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17881788DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761937DOMAINSushi 10.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19181918DISULFIDBy similarity.might get lost (downstream of altered splice site)
19291929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19351935DISULFIDBy similarity.might get lost (downstream of altered splice site)
19391939DISULFIDBy similarity.might get lost (downstream of altered splice site)
19392047DOMAINCUB 11.might get lost (downstream of altered splice site)
19651965DISULFIDBy similarity.might get lost (downstream of altered splice site)
20192019CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20502109DOMAINSushi 11.might get lost (downstream of altered splice site)
20522052DISULFIDBy similarity.might get lost (downstream of altered splice site)
20782078DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21042104CONFLICTI -> T (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
21072107DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112111DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112219DOMAINCUB 12.might get lost (downstream of altered splice site)
21372137DISULFIDBy similarity.might get lost (downstream of altered splice site)
21552155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22222281DOMAINSushi 12.might get lost (downstream of altered splice site)
22242224DISULFIDBy similarity.might get lost (downstream of altered splice site)
22502250DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832283DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832394DOMAINCUB 13.might get lost (downstream of altered splice site)
22862286CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22912291CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23092309DISULFIDBy similarity.might get lost (downstream of altered splice site)
23242324CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23932454DOMAINSushi 13.might get lost (downstream of altered splice site)
23952395DISULFIDBy similarity.might get lost (downstream of altered splice site)
24232423DISULFIDBy similarity.might get lost (downstream of altered splice site)
24372437DISULFIDBy similarity.might get lost (downstream of altered splice site)
24522452DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562456DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562567DOMAINCUB 14.might get lost (downstream of altered splice site)
24842484DISULFIDBy similarity.might get lost (downstream of altered splice site)
24952495CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25372537CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25672629DOMAINSushi 14.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25962596DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102610DISULFIDBy similarity.might get lost (downstream of altered splice site)
26272627DISULFIDBy similarity.might get lost (downstream of altered splice site)
26302691DOMAINSushi 15.might get lost (downstream of altered splice site)
26322632DISULFIDBy similarity.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26742674DISULFIDBy similarity.might get lost (downstream of altered splice site)
26892689DISULFIDBy similarity.might get lost (downstream of altered splice site)
26922756DOMAINSushi 16.might get lost (downstream of altered splice site)
26942694DISULFIDBy similarity.might get lost (downstream of altered splice site)
27112711CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27252725DISULFIDBy similarity.might get lost (downstream of altered splice site)
27392739DISULFIDBy similarity.might get lost (downstream of altered splice site)
27422742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27542754DISULFIDBy similarity.might get lost (downstream of altered splice site)
27572814DOMAINSushi 17.might get lost (downstream of altered splice site)
27592759DISULFIDBy similarity.might get lost (downstream of altered splice site)
27852785DISULFIDBy similarity.might get lost (downstream of altered splice site)
27992799DISULFIDBy similarity.might get lost (downstream of altered splice site)
28122812DISULFIDBy similarity.might get lost (downstream of altered splice site)
28152872DOMAINSushi 18.might get lost (downstream of altered splice site)
28172817DISULFIDBy similarity.might get lost (downstream of altered splice site)
28432843DISULFIDBy similarity.might get lost (downstream of altered splice site)
28572857DISULFIDBy similarity.might get lost (downstream of altered splice site)
28622862CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28702870DISULFIDBy similarity.might get lost (downstream of altered splice site)
28732930DOMAINSushi 19.might get lost (downstream of altered splice site)
28752875DISULFIDBy similarity.might get lost (downstream of altered splice site)
29012901DISULFIDBy similarity.might get lost (downstream of altered splice site)
29152915DISULFIDBy similarity.might get lost (downstream of altered splice site)
29282928DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312992DOMAINSushi 20.might get lost (downstream of altered splice site)
29322932CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29332933DISULFIDBy similarity.might get lost (downstream of altered splice site)
29522952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29632963DISULFIDBy similarity.might get lost (downstream of altered splice site)
29772977DISULFIDBy similarity.might get lost (downstream of altered splice site)
29902990DISULFIDBy similarity.might get lost (downstream of altered splice site)
29933050DOMAINSushi 21.might get lost (downstream of altered splice site)
29952995DISULFIDBy similarity.might get lost (downstream of altered splice site)
30213021DISULFIDBy similarity.might get lost (downstream of altered splice site)
30353035DISULFIDBy similarity.might get lost (downstream of altered splice site)
30483048DISULFIDBy similarity.might get lost (downstream of altered splice site)
30543111DOMAINSushi 22.might get lost (downstream of altered splice site)
30563056DISULFIDBy similarity.might get lost (downstream of altered splice site)
30823082DISULFIDBy similarity.might get lost (downstream of altered splice site)
30963096DISULFIDBy similarity.might get lost (downstream of altered splice site)
30993099CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31093109DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123170DOMAINSushi 23.might get lost (downstream of altered splice site)
31143114DISULFIDBy similarity.might get lost (downstream of altered splice site)
31413141DISULFIDBy similarity.might get lost (downstream of altered splice site)
31553155DISULFIDBy similarity.might get lost (downstream of altered splice site)
31583158CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31673167CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31683168DISULFIDBy similarity.might get lost (downstream of altered splice site)
31713230DOMAINSushi 24.might get lost (downstream of altered splice site)
31733173DISULFIDBy similarity.might get lost (downstream of altered splice site)
31943194CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31993199DISULFIDBy similarity.might get lost (downstream of altered splice site)
32083208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32153215DISULFIDBy similarity.might get lost (downstream of altered splice site)
32183218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32283228DISULFIDBy similarity.might get lost (downstream of altered splice site)
32313288DOMAINSushi 25.might get lost (downstream of altered splice site)
32333233DISULFIDBy similarity.might get lost (downstream of altered splice site)
32593259DISULFIDBy similarity.might get lost (downstream of altered splice site)
32733273DISULFIDBy similarity.might get lost (downstream of altered splice site)
32763276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32863286DISULFIDBy similarity.might get lost (downstream of altered splice site)
32893346DOMAINSushi 26.might get lost (downstream of altered splice site)
32913291DISULFIDBy similarity.might get lost (downstream of altered splice site)
33173317DISULFIDBy similarity.might get lost (downstream of altered splice site)
33313331DISULFIDBy similarity.might get lost (downstream of altered splice site)
33443344DISULFIDBy similarity.might get lost (downstream of altered splice site)
33503408DOMAINSushi 27.might get lost (downstream of altered splice site)
33523352DISULFIDBy similarity.might get lost (downstream of altered splice site)
33643364CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
33793379DISULFIDBy similarity.might get lost (downstream of altered splice site)
33933393DISULFIDBy similarity.might get lost (downstream of altered splice site)
34063406DISULFIDBy similarity.might get lost (downstream of altered splice site)
34093468DOMAINSushi 28.might get lost (downstream of altered splice site)
34113411DISULFIDBy similarity.might get lost (downstream of altered splice site)
34383438DISULFIDBy similarity.might get lost (downstream of altered splice site)
34533453DISULFIDBy similarity.might get lost (downstream of altered splice site)
34663466DISULFIDBy similarity.might get lost (downstream of altered splice site)
35223522CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35293529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36123612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36183618CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36273627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36313651TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
36523707TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11124 / 11124
position (AA) of stopcodon in wt / mu AA sequence 3708 / 3708
position of stopcodon in wt / mu cDNA 11369 / 11369
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 246 / 246
chromosome 8
strand -1
last intron/exon boundary 11210
theoretical NMD boundary in CDS 10914
length of CDS 11124
coding sequence (CDS) position 657
cDNA position
(for ins/del: last normal base / first normal base)		 902
gDNA position
(for ins/del: last normal base / first normal base)		 263326
chromosomal position
(for ins/del: last normal base / first normal base)		 114186003
original gDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered gDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
original cDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered cDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
wildtype AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET
VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ
VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF
HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW
NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET
IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ
LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE
ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW
DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP
VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE
LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI
QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI
ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN
GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF
ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG
ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP
ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS
PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA
NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV
PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG
TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT
ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA
NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS
NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG
KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH
GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA
NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA
LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL
LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD
YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT
QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
mutated AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCMA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET
VPNSLAQWND SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ
VVSFATEHNW DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF
HLEYTAIGLD SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW
NYPIPICLAQ CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET
IHDYLEVRSG SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ
LQSCPDPRPF RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE
ALCGGNITAM NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW
DGPDQNSPQI GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP
VPNAEILTED DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE
LRLDSTGVIL SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI
QSPVLISLSG DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI
ISQTGGQLNS VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN
GGILTTDYLV GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF
ILEHGRWRIV NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG
ELPTPPNGNK IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP
ELIVNGQVIG ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS
PIYGRTSGNG FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA
NSKRESKIEH GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV
PPNAVLSGEK YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG
TPGHGSRQES NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT
ANGKVFRIDG TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA
NGLRYGDDYV VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS
NGRLEGTNFD WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG
KREGKSFIYQ SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH
GSQNNTFGFQ VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA
NVVGMDLPSH GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA
LGTPSPKLSV PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL
LSGVYKSQEA RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD
YGQFGLQRLG LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT
QYTGCSVHEN NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.902469903641681 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:114186003T>CN/A show variant in all transcripts   IGV
HGNC symbol CSMD3
Ensembl transcript ID ENST00000352409
Genbank transcript ID N/A
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.657A>G
cDNA.816A>G
g.263326A>G
AA changes I219M Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 219
frameshift no
known variant Reference ID: rs2219898
databasehomozygous (C/C)heterozygousallele carriers
1000G60911161725
ExAC97231332123044
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.921
0.0590.996
(flanking)3.2621
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased263325wt: 0.24 / mu: 0.46wt: CCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAG
mu: CCACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAG		 gcat|AGCC
Donor increased263330wt: 0.31 / mu: 0.42wt: TAGCCAATTCAGTTA
mu: TGGCCAATTCAGTTA		 GCCA|attc
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      219YILDGHPQLTCIANSVNTASWDFP
mutated  all conserved    219YILDGHPQLTCMANSVNTASWDF
Ptroglodytes  all identical  ENSPTRG00000020517  219YILDGHPQLTCIANSVNTASWDF
Mmulatta  all identical  ENSMMUG00000007342  219YILDGHPQLTCIANSVNTASWDF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022311  219YILDGHPQLTCIANSVNTASWDF
Ggallus  no alignment  ENSGALG00000016111  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000025787  n/a
protein features
start (aa)end (aa)featuredetails 
643630TOPO_DOMExtracellular (Potential).lost
176237DOMAINSushi 1.lost
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
241241DISULFIDBy similarity.might get lost (downstream of altered splice site)
241345DOMAINCUB 2.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
361361CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
409409CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
484545DOMAINSushi 2.might get lost (downstream of altered splice site)
486486DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510CONFLICTF -> L (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
512512DISULFIDBy similarity.might get lost (downstream of altered splice site)
526526DISULFIDBy similarity.might get lost (downstream of altered splice site)
543543DISULFIDBy similarity.might get lost (downstream of altered splice site)
548548DISULFIDBy similarity.might get lost (downstream of altered splice site)
548659DOMAINCUB 3.might get lost (downstream of altered splice site)
574574DISULFIDBy similarity.might get lost (downstream of altered splice site)
662719DOMAINSushi 3.might get lost (downstream of altered splice site)
664664DISULFIDBy similarity.might get lost (downstream of altered splice site)
690690DISULFIDBy similarity.might get lost (downstream of altered splice site)
704704DISULFIDBy similarity.might get lost (downstream of altered splice site)
717717DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
721829DOMAINCUB 4.might get lost (downstream of altered splice site)
724724CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
726726CONFLICTT -> A (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
823823CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
832893DOMAINSushi 4.might get lost (downstream of altered splice site)
834834DISULFIDBy similarity.might get lost (downstream of altered splice site)
860860DISULFIDBy similarity.might get lost (downstream of altered splice site)
875875DISULFIDBy similarity.might get lost (downstream of altered splice site)
891891DISULFIDBy similarity.might get lost (downstream of altered splice site)
895895DISULFIDBy similarity.might get lost (downstream of altered splice site)
8951003DOMAINCUB 5.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
966966CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
977977CONFLICTS -> I (in Ref. 3; BAB67787).might get lost (downstream of altered splice site)
10081065DOMAINSushi 5.might get lost (downstream of altered splice site)
10101010DISULFIDBy similarity.might get lost (downstream of altered splice site)
10361036DISULFIDBy similarity.might get lost (downstream of altered splice site)
10501050DISULFIDBy similarity.might get lost (downstream of altered splice site)
10631063DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671067DISULFIDBy similarity.might get lost (downstream of altered splice site)
10671177DOMAINCUB 6.might get lost (downstream of altered splice site)
10921092CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10931093DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11711171CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11801239DOMAINSushi 6.might get lost (downstream of altered splice site)
11821182DISULFIDBy similarity.might get lost (downstream of altered splice site)
12081208DISULFIDBy similarity.might get lost (downstream of altered splice site)
12221222DISULFIDBy similarity.might get lost (downstream of altered splice site)
12371237DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411241DISULFIDBy similarity.might get lost (downstream of altered splice site)
12411349DOMAINCUB 7.might get lost (downstream of altered splice site)
12671267DISULFIDBy similarity.might get lost (downstream of altered splice site)
12801280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13521412DOMAINSushi 7.might get lost (downstream of altered splice site)
13541354DISULFIDBy similarity.might get lost (downstream of altered splice site)
13811381DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14101410DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141523DOMAINCUB 8.might get lost (downstream of altered splice site)
14411441DISULFIDBy similarity.might get lost (downstream of altered splice site)
15261586DOMAINSushi 8.might get lost (downstream of altered splice site)
15281528DISULFIDBy similarity.might get lost (downstream of altered splice site)
15361536CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15541554DISULFIDBy similarity.might get lost (downstream of altered splice site)
15681568DISULFIDBy similarity.might get lost (downstream of altered splice site)
15841584DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881588DISULFIDBy similarity.might get lost (downstream of altered splice site)
15881696DOMAINCUB 9.might get lost (downstream of altered splice site)
15911591CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16141614DISULFIDBy similarity.might get lost (downstream of altered splice site)
16991760DOMAINSushi 9.might get lost (downstream of altered splice site)
17011701DISULFIDBy similarity.might get lost (downstream of altered splice site)
17091709CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17271727DISULFIDBy similarity.might get lost (downstream of altered splice site)
17411741DISULFIDBy similarity.might get lost (downstream of altered splice site)
17581758DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621762DISULFIDBy similarity.might get lost (downstream of altered splice site)
17621870DOMAINCUB 10.might get lost (downstream of altered splice site)
17811781CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17881788DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761937DOMAINSushi 10.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19181918DISULFIDBy similarity.might get lost (downstream of altered splice site)
19291929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19351935DISULFIDBy similarity.might get lost (downstream of altered splice site)
19391939DISULFIDBy similarity.might get lost (downstream of altered splice site)
19392047DOMAINCUB 11.might get lost (downstream of altered splice site)
19651965DISULFIDBy similarity.might get lost (downstream of altered splice site)
20192019CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20502109DOMAINSushi 11.might get lost (downstream of altered splice site)
20522052DISULFIDBy similarity.might get lost (downstream of altered splice site)
20782078DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21042104CONFLICTI -> T (in Ref. 1; AAO34702).might get lost (downstream of altered splice site)
21072107DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112111DISULFIDBy similarity.might get lost (downstream of altered splice site)
21112219DOMAINCUB 12.might get lost (downstream of altered splice site)
21372137DISULFIDBy similarity.might get lost (downstream of altered splice site)
21552155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22222281DOMAINSushi 12.might get lost (downstream of altered splice site)
22242224DISULFIDBy similarity.might get lost (downstream of altered splice site)
22502250DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832283DISULFIDBy similarity.might get lost (downstream of altered splice site)
22832394DOMAINCUB 13.might get lost (downstream of altered splice site)
22862286CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22912291CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23092309DISULFIDBy similarity.might get lost (downstream of altered splice site)
23242324CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
23932454DOMAINSushi 13.might get lost (downstream of altered splice site)
23952395DISULFIDBy similarity.might get lost (downstream of altered splice site)
24232423DISULFIDBy similarity.might get lost (downstream of altered splice site)
24372437DISULFIDBy similarity.might get lost (downstream of altered splice site)
24522452DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562456DISULFIDBy similarity.might get lost (downstream of altered splice site)
24562567DOMAINCUB 14.might get lost (downstream of altered splice site)
24842484DISULFIDBy similarity.might get lost (downstream of altered splice site)
24952495CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25372537CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25672629DOMAINSushi 14.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25962596DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102610DISULFIDBy similarity.might get lost (downstream of altered splice site)
26272627DISULFIDBy similarity.might get lost (downstream of altered splice site)
26302691DOMAINSushi 15.might get lost (downstream of altered splice site)
26322632DISULFIDBy similarity.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26742674DISULFIDBy similarity.might get lost (downstream of altered splice site)
26892689DISULFIDBy similarity.might get lost (downstream of altered splice site)
26922756DOMAINSushi 16.might get lost (downstream of altered splice site)
26942694DISULFIDBy similarity.might get lost (downstream of altered splice site)
27112711CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27252725DISULFIDBy similarity.might get lost (downstream of altered splice site)
27392739DISULFIDBy similarity.might get lost (downstream of altered splice site)
27422742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
27542754DISULFIDBy similarity.might get lost (downstream of altered splice site)
27572814DOMAINSushi 17.might get lost (downstream of altered splice site)
27592759DISULFIDBy similarity.might get lost (downstream of altered splice site)
27852785DISULFIDBy similarity.might get lost (downstream of altered splice site)
27992799DISULFIDBy similarity.might get lost (downstream of altered splice site)
28122812DISULFIDBy similarity.might get lost (downstream of altered splice site)
28152872DOMAINSushi 18.might get lost (downstream of altered splice site)
28172817DISULFIDBy similarity.might get lost (downstream of altered splice site)
28432843DISULFIDBy similarity.might get lost (downstream of altered splice site)
28572857DISULFIDBy similarity.might get lost (downstream of altered splice site)
28622862CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28702870DISULFIDBy similarity.might get lost (downstream of altered splice site)
28732930DOMAINSushi 19.might get lost (downstream of altered splice site)
28752875DISULFIDBy similarity.might get lost (downstream of altered splice site)
29012901DISULFIDBy similarity.might get lost (downstream of altered splice site)
29152915DISULFIDBy similarity.might get lost (downstream of altered splice site)
29282928DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312992DOMAINSushi 20.might get lost (downstream of altered splice site)
29322932CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29332933DISULFIDBy similarity.might get lost (downstream of altered splice site)
29522952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
29632963DISULFIDBy similarity.might get lost (downstream of altered splice site)
29772977DISULFIDBy similarity.might get lost (downstream of altered splice site)
29902990DISULFIDBy similarity.might get lost (downstream of altered splice site)
29933050DOMAINSushi 21.might get lost (downstream of altered splice site)
29952995DISULFIDBy similarity.might get lost (downstream of altered splice site)
30213021DISULFIDBy similarity.might get lost (downstream of altered splice site)
30353035DISULFIDBy similarity.might get lost (downstream of altered splice site)
30483048DISULFIDBy similarity.might get lost (downstream of altered splice site)
30543111DOMAINSushi 22.might get lost (downstream of altered splice site)
30563056DISULFIDBy similarity.might get lost (downstream of altered splice site)
30823082DISULFIDBy similarity.might get lost (downstream of altered splice site)
30963096DISULFIDBy similarity.might get lost (downstream of altered splice site)
30993099CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31093109DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123170DOMAINSushi 23.might get lost (downstream of altered splice site)
31143114DISULFIDBy similarity.might get lost (downstream of altered splice site)
31413141DISULFIDBy similarity.might get lost (downstream of altered splice site)
31553155DISULFIDBy similarity.might get lost (downstream of altered splice site)
31583158CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31673167CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31683168DISULFIDBy similarity.might get lost (downstream of altered splice site)
31713230DOMAINSushi 24.might get lost (downstream of altered splice site)
31733173DISULFIDBy similarity.might get lost (downstream of altered splice site)
31943194CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31993199DISULFIDBy similarity.might get lost (downstream of altered splice site)
32083208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32153215DISULFIDBy similarity.might get lost (downstream of altered splice site)
32183218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32283228DISULFIDBy similarity.might get lost (downstream of altered splice site)
32313288DOMAINSushi 25.might get lost (downstream of altered splice site)
32333233DISULFIDBy similarity.might get lost (downstream of altered splice site)
32593259DISULFIDBy similarity.might get lost (downstream of altered splice site)
32733273DISULFIDBy similarity.might get lost (downstream of altered splice site)
32763276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
32863286DISULFIDBy similarity.might get lost (downstream of altered splice site)
32893346DOMAINSushi 26.might get lost (downstream of altered splice site)
32913291DISULFIDBy similarity.might get lost (downstream of altered splice site)
33173317DISULFIDBy similarity.might get lost (downstream of altered splice site)
33313331DISULFIDBy similarity.might get lost (downstream of altered splice site)
33443344DISULFIDBy similarity.might get lost (downstream of altered splice site)
33503408DOMAINSushi 27.might get lost (downstream of altered splice site)
33523352DISULFIDBy similarity.might get lost (downstream of altered splice site)
33643364CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
33793379DISULFIDBy similarity.might get lost (downstream of altered splice site)
33933393DISULFIDBy similarity.might get lost (downstream of altered splice site)
34063406DISULFIDBy similarity.might get lost (downstream of altered splice site)
34093468DOMAINSushi 28.might get lost (downstream of altered splice site)
34113411DISULFIDBy similarity.might get lost (downstream of altered splice site)
34383438DISULFIDBy similarity.might get lost (downstream of altered splice site)
34533453DISULFIDBy similarity.might get lost (downstream of altered splice site)
34663466DISULFIDBy similarity.might get lost (downstream of altered splice site)
35223522CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35293529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36123612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36183618CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36273627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36313651TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
36523707TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10914 / 10914
position (AA) of stopcodon in wt / mu AA sequence 3638 / 3638
position of stopcodon in wt / mu cDNA 11073 / 11073
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 160 / 160
chromosome 8
strand -1
last intron/exon boundary 10914
theoretical NMD boundary in CDS 10704
length of CDS 10914
coding sequence (CDS) position 657
cDNA position
(for ins/del: last normal base / first normal base)		 816
gDNA position
(for ins/del: last normal base / first normal base)		 263326
chromosomal position
(for ins/del: last normal base / first normal base)		 114186003
original gDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered gDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
original cDNA sequence snippet CACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGC
altered cDNA sequence snippet CACCCTCAGCTCACCTGCATGGCCAATTCAGTTAATACAGC
wildtype AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
mutated AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCMA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
speed 0.36 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems