Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999989761 (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) chr11:1246941A>GN/A show variant in all transcripts   IGV
HGNC symbol MUC5B
Ensembl transcript ID ENST00000447027
Genbank transcript ID N/A
UniProt peptide Q9HC84
alteration type single base exchange
alteration region CDS
DNA changes c.101A>G
cDNA.159A>G
g.2646A>G
AA changes E34G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 34
frameshift no
known variant Reference ID: rs2672785
databasehomozygous (G/G)heterozygousallele carriers
1000G29710461343
ExAC36282011223740
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5790
-0.2310
(flanking)-1.830
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained26450.63mu: GCTGGGGGAATGCAG TGGG|ggaa
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      34AETQGPVEPSWENAGHTMDGGAPT
mutated  not conserved    34AETQGPVEPSWGNAGHTMDGGAP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000066108  34AESQGQAELSSEHLELTGDSQRVYSDS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089847  n/a
Dmelanogaster  no alignment  FBgn0029167  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
76277DOMAINVWFD 1.might get lost (downstream of altered splice site)
95100CONFLICTFPGLCN -> LPCLCK (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
9999DISULFIDBy similarity.might get lost (downstream of altered splice site)
104104CONFLICTS -> C (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
107107DISULFIDBy similarity.might get lost (downstream of altered splice site)
142142CONFLICTE -> K (in Ref. 1; AAG33673).might get lost (downstream of altered splice site)
145145CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
201201CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225CONFLICTR -> S (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
254254CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329385DOMAINTIL 1.might get lost (downstream of altered splice site)
330331CONFLICTPL -> T (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
337337CONFLICTE -> N (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
356356CONFLICTE -> K (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
362362CONFLICTG -> R (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
368368CONFLICTG -> GS (in Ref. 1; AAG33673).might get lost (downstream of altered splice site)
373373CONFLICTD -> N (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
392393CONFLICTRT -> TR (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
401401CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
424638DOMAINVWFD 2.might get lost (downstream of altered splice site)
447447DISULFIDBy similarity.might get lost (downstream of altered splice site)
455455DISULFIDBy similarity.might get lost (downstream of altered splice site)
467468CONFLICTRK -> GR (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
511511CONFLICTL -> P (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
515515CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
584586CONFLICTGAA -> AH (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
600600CONFLICTA -> S (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
627628CONFLICTDP -> RS (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
632632CONFLICTF -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
675675CONFLICTA -> P (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
695752DOMAINTIL 2.might get lost (downstream of altered splice site)
700700CONFLICTR -> P (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
751751CONFLICTE -> K (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
805805CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
805855DOMAINTIL 3.might get lost (downstream of altered splice site)
811811CONFLICTP -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
816817CONFLICTLR -> DG (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
855927DOMAINVWFC 1.might get lost (downstream of altered splice site)
859860CONFLICTHN -> NK (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
866866CONFLICTP -> L (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
872872CONFLICTV -> F (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
883883CONFLICTR -> T (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
889889CONFLICTR -> G (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
8941099DOMAINVWFD 3.might get lost (downstream of altered splice site)
929929CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10201020CONFLICTG -> A (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
10821082CONFLICTQ -> E (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
11091261COMPBIASCys-rich.might get lost (downstream of altered splice site)
11441144CONFLICTS -> C (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
11951195CONFLICTG -> R (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
12071207CONFLICTMissing (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
12761276CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12911291CONFLICTS -> T (in Ref. 3; CAA06167).might get lost (downstream of altered splice site)
12921292CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
13171317CONFLICTMissing (in Ref. 2; AAC67545).might get lost (downstream of altered splice site)
13331432REPEATCys-rich subdomain 1.might get lost (downstream of altered splice site)
13334228REGION7 X Cys-rich subdomain repeats.might get lost (downstream of altered splice site)
13401340CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
14561502COMPBIASThr-rich.might get lost (downstream of altered splice site)
15031604REPEATCys-rich subdomain 2.might get lost (downstream of altered splice site)
15091509CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
15561556CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
16084932COMPBIASThr-rich.might get lost (downstream of altered splice site)
16751677CONFLICTTTP -> RQS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
17741774CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17841885REPEATCys-rich subdomain 3.might get lost (downstream of altered splice site)
17901790MUTAGENW->A: Poorly secreted.might get lost (downstream of altered splice site)
17901790CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
18902199REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
19261927CONFLICTPT -> AS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19301931CONFLICTLR -> QA (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19341940CONFLICTPPPKVLT -> GTPHVS (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19561956CONFLICTS -> F (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
19801982CONFLICTVTP -> FTA (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20022002CONFLICTT -> M (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20172017CONFLICTA -> V (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20522052CONFLICTP -> L (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
20692073CONFLICTTALTP -> RARTL (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
21022102CONFLICTA -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
21742174CONFLICTN -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22032203CONFLICTP -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22112211CONFLICTR -> C (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
22332233CONFLICTV -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
23002300CONFLICTS -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
23132414REPEATCys-rich subdomain 4.might get lost (downstream of altered splice site)
23202320CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
23332333CONFLICTP -> S (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
24192756REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
24562497CONFLICTSSTPGTTWILTEPSTTATVTVPTGSTATASSTQATAGTPHV S -> TSTLRTAPPPKVLT (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
24612462CONFLICTTT -> DD (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
24683695CONFLICTMissing (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
25132513CONFLICTF -> S (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25372539CONFLICTFTA -> VTP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25742574CONFLICTV -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
25822582CONFLICTT -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26092609CONFLICTL -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26282630CONFLICTRTL -> LTP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
26592659CONFLICTP -> A (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
27132713CONFLICTT -> R (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
27492749CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28342834CONFLICTR -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
28542886REPEATHAT 1.might get lost (downstream of altered splice site)
28712971REPEATCys-rich subdomain 5.might get lost (downstream of altered splice site)
28772877CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
29763456REGION17 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
30283028CONFLICTT -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
30803086CONFLICTLPEQTTT -> SQNRPPH (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
31483152CONFLICTTGPTA -> LPHG (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
32893289CONFLICTMissing (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
34493449CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
34903490CONFLICTV -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35003500CONFLICTS -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35043504CONFLICTH -> P (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
35543586REPEATHAT 2.might get lost (downstream of altered splice site)
35713671REPEATCys-rich subdomain 6.might get lost (downstream of altered splice site)
35773577CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
36764013REGION11 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
37163747CONFLICTPGTTWILTEPSTTATVTVPTGSTATASSTQAT -> QGPP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
38113811CONFLICTQ -> P (in Ref. 6; AAB61398).might get lost (downstream of altered splice site)
38313831CONFLICTA -> V (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
38453845CONFLICTR -> G (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39093909CONFLICTV -> I (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39243925CONFLICTTT -> QP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
39753975CONFLICTV -> E (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
40064006CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
40604061CONFLICTQH -> TT (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
41114143REPEATHAT 3.might get lost (downstream of altered splice site)
41144114CONFLICTS -> Q (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
41284228REPEATCys-rich subdomain 7.might get lost (downstream of altered splice site)
41344134CARBOHYDC-linked (Man) (Probable).might get lost (downstream of altered splice site)
41774177CONFLICTQ -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
42334879REGION23 X approximate tandem repeats, Ser/Thr- rich.might get lost (downstream of altered splice site)
43134313CONFLICTS -> T (in Ref. 4; CAA52910).might get lost (downstream of altered splice site)
43734373CONFLICTMissing (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
44614463CONFLICTVPT -> APP (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
45674567CONFLICTA -> T (in Ref. 4; CAA96577).might get lost (downstream of altered splice site)
47804780CONFLICTT -> P (in Ref. 7; AAC51344).might get lost (downstream of altered splice site)
48044804CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
49604960CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50175017CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50245024CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50465046CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
50745305DOMAINVWFD 4.might get lost (downstream of altered splice site)
50965096CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
51115111CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
51345134CONFLICTR -> A (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
51645164CONFLICTQ -> P (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
51875187CONFLICTR -> A (in Ref. 7; AAC51344 and 8; AAB65151).might get lost (downstream of altered splice site)
52155215CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
52895289CONFLICTP -> L (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
53045306CONFLICTNLV -> TLL (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
53335333CONFLICTA -> R (in Ref. 7; AAC51344).might get lost (downstream of altered splice site)
53975397CONFLICTD -> N (in Ref. 7; AAC51343/AAC51344).might get lost (downstream of altered splice site)
54125484DOMAINVWFC 2.might get lost (downstream of altered splice site)
54745474CONFLICTE -> R (in Ref. 9; CAA70926).might get lost (downstream of altered splice site)
54755475CONFLICTN -> T (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
54865486CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55215587DOMAINVWFC 3.might get lost (downstream of altered splice site)
55265526CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55655565CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
55665566CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56025602CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56125612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56205620CONFLICTA -> S (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
56325632CONFLICTA -> D (in Ref. 7; AAC51343).might get lost (downstream of altered splice site)
56535653DISULFIDBy similarity.might get lost (downstream of altered splice site)
56535742DOMAINCTCK.might get lost (downstream of altered splice site)
56605660CONFLICTV -> C (in Ref. 8; AAB65151).might get lost (downstream of altered splice site)
56635663CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56725672DISULFIDBy similarity.might get lost (downstream of altered splice site)
56775677CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
56815681DISULFIDBy similarity.might get lost (downstream of altered splice site)
56855685DISULFIDBy similarity.might get lost (downstream of altered splice site)
57055705DISULFIDBy similarity.might get lost (downstream of altered splice site)
57195719DISULFIDBy similarity.might get lost (downstream of altered splice site)
57215721CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
57355735DISULFIDBy similarity.might get lost (downstream of altered splice site)
57375737DISULFIDBy similarity.might get lost (downstream of altered splice site)
57415741DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 17298 / 17298
position (AA) of stopcodon in wt / mu AA sequence 5766 / 5766
position of stopcodon in wt / mu cDNA 17356 / 17356
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 59 / 59
chromosome 11
strand 1
last intron/exon boundary 17137
theoretical NMD boundary in CDS 17028
length of CDS 17298
coding sequence (CDS) position 101
cDNA position
(for ins/del: last normal base / first normal base)		 159
gDNA position
(for ins/del: last normal base / first normal base)		 2646
chromosomal position
(for ins/del: last normal base / first normal base)		 1246941
original gDNA sequence snippet CCCTGTGGAGCCGAGCTGGGAGAATGCAGGGCACACCATGG
altered gDNA sequence snippet CCCTGTGGAGCCGAGCTGGGGGAATGCAGGGCACACCATGG
original cDNA sequence snippet CCCTGTGGAGCCGAGCTGGGAGAATGCAGGGCACACCATGG
altered cDNA sequence snippet CCCTGTGGAGCCGAGCTGGGGGAATGCAGGGCACACCATGG
wildtype AA sequence MGAPSACRTL VLALAAMLVV PQAETQGPVE PSWENAGHTM DGGAPTSSPT RRVSFVPPVT
VFPSLSPLNP AHNGRVCSTW GDFHYKTFDG DVFRFPGLCN YVFSEHCRAA YEDFNVQLRR
GLVGSRPVVT RVVIKAQGLV LEASNGSVLI NGQREELPYS RTGLLVEQSG DYIKVSIRLV
LTFLWNGEDS ALLELDPKYA NQTCGLCGDF NGLPAFNEFY AHNARLTPLQ FGNLQKLDGP
TEQCPDPLPL PAGNCTDEEG ICHRTLLGPA FAECHALVDS TAYLAACAQD LCRCPTCPCA
TFVEYSRQCA HAGGQPRNWR CPELCPRTCP LNMQHQECGS PCTDTCSNPQ RAQLCEDHCV
DGCFCPPGRS CTVLDDITHS GCLPLGQCPC THGGRTYSPG TSFNTTCSSC TCSGGLWQCQ
DLPCPGTCSV QGGAHISTYD EKLYDLHGDC SYVLSKKCAD SSFTVLAELR KCGLTDNENC
LKAVTLSLDG GDTAIRVQAD GGVFLNSIYT QLPLSAANIT LFTPSSFFIV VQTGLGLQLL
VQLVPLMQVF VRLDPAHQGQ MCGLCGNFNQ NQADDFTALS GVVEATGAAF ANTWKAQAAC
ANARNSFEDP CSLSVENENY ARHWCSRLTD PNSAFSRCHS IINPKPFHSN CMFDTCNCER
SEDCLCAALS SYVHACAAKG VQLSDWRDGV CTKYMQNCPK SQRYAYVVDA CQPTCRGLSE
ADVTCSVSFV PVDGCTCPAG TFLNDAGACV PAQECPCYAH GTVLAPGEVV HDEGAVCSCT
GGKLSCLGAS LQKSTGCAAP MVYLDCSNSS AGTPGAECLR SCHTLDVGCF STHCVSGCVC
PPGLVSDGSG GCIAEEDCPC VHNEATYKPG ETIRVDCNTC TCRNRRWECS HRLCLGTCVA
YGDGHFITFD GDRYSFEGSC EYILAQDYCG DNTTHGTFRI VTENIPCGTT GTTCSKAIKL
FVESYELILQ EGTFKAVARG PGGDPPYKIR YMGIFLVIET HGMAVSWDRK TSVFIRLHQD
YKGRVCGLCG NFDDNAINDF ATRSRSVVGD ALEFGNSWKL SPSCPDALAP KDPCTANPFR
KSWAQKQCSI LHGPTFAACR SQVDSTKYYE ACVNDACACD SGGDCECFCT AVAAYAQACH
DAGLCVSWRT PDTCPLFCDF YNPHGGCEWH YQPCGAPCLK TCRNPSGHCL VDLPGLEGCY
PKCPPSQPFF NEDQMKCVAQ CGCYDKDGNY YDVGARVPTA ENCQSCNCTP SGIQCAHSLE
ACTCTYEDRT YSYQDVIYNT TDGLGACLIA ICGSNGTIIR KAVACPGTPA TTPFTFTTAW
VPHSTTSPAL PVSTVCVREV CRWSSWYNGH RPEPGLGGGD FETFENLRQR GYQVCPVLAD
IECRAAQLPD MPLEELGQQV DCDRMRGLMC ANSQQSPPLC HDYELRVLCC EYVPCGPSPA
PGTSPQPSLS ASTEPAVPTP TQTTATEKTT LWVTPSIRST AALTSQTGSS SGPVTVTPSA
PGTTTCQPRC QWTEWFDEDY PKSEQLGGDV ESYDKIRAAG GHLCQQPKDI ECQAESFPNW
TLAQVGQKVH CDVHFGLVCR NWEQEGVFKM CYNYRIRVLC CSDDHCRGRA TTPPPTTELE
TATTTTTQAL FSTPQPTSSP GLTRAPPAST TAVPTLSEGL TSPRYTSTLG TATTGGPTTP
AGSTEPTVPG VATSTLPTRS ALPGTTGSLG TWRPSQPPTL APTTMATSRA RPTGTASTAS
KEPLTTSLAP TLTSELSTSQ AETSTPRTET TMSPLTNTTT SQGTTRCQPK CEWTEWFDVD
FPTSGVAGGD METFENIRAA GGKMCWAPKS IECRAENYPE VSIDQVGQVL TCSLETGLTC
KNEDQTGRFN MCFNYNVRVL CCDDYSHCPS TPATSSTATP SSTPGTTWIL TKPTTTATTT
ASTGSTATPT STLRTAPPPK VLTTTATTPT VTSSKATPSS SPGTATALPA LRSTATTPTA
TSVTPIPSSS LGTTWTRLSQ TTTPTATMST ATPSSTPETA HTSTVLTATA TTTGATGSVA
TPSSTPGTAH TTKVPTTTTT GFTATPSSSP GTALTPPVWI STTTTPTTRG STVTPSSIPG
TTHTATVLTT TTTTVATGSM ATPSSSTQTS GTPPSLTTTA TTITATGSTT NPSSTPGTTP
IPPVLTTTAT TPAATSNTVT PSSALGTTHT PPVPNTMATT HGRSLPPSSP HTVRTAWTSA
TSGILGTTHI TEPSTVTSHT LAATTGTTQH STPALSSPHP SSRTTESPPS PGTTTPGHTT
ATSRTTATAT PSKTRTSTLL PSSPTSAPIT TVVTMGCEPQ CAWSEWLDYS YPMPGPSGGD
FDTYSNIRAA GGAVCEQPLG LECRAQAQPG VPLRELGQVV ECSLDFGLVC RNREQVGKFK
MCFNYEIRVF CCNYGHCPST PATSSTAMPS STPGTTWILT ELTTTATTTE STGSTATPSS
TPGTTWILTE PSTTATVTVP TGSTATASST QATAGTPHVS TTATTPTVTS SKATPFSSPG
TATALPALRS TATTPTATSF TAIPSSSLGT TWTRLSQTTT PTATMSTATP SSTPETVHTS
TVLTTTATTT GATGSVATPS STPGTAHTTK VLTTTTTGFT ATPSSSPGTA RTLPVWISTT
TTPTTRGSTV TPSSIPGTTH TPTVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI
TATGSTTNPS STPGTTPIPP VLTTTATTPA ATSSTVTPSS ALGTTHTPPV PNTTATTHGR
SLSPSSPHTV RTAWTSATSG TLGTTHITEP STGTSHTPAA TTGTTQHSTP ALSSPHPSSR
TTESPPSPGT TTPGHTRATS RTTATATPSK TRTSTLLPSS PTSAPITTVV TMGCEPQCAW
SEWLDYSYPM PGPSGGDFDT YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS
LDFGLVCRNR EQVGKFKMCF NYEIRVFCCN YGHCPSTPAT SSTATPSSTP GTTWILTEQT
TAATTTATTG STAIPSSTPG TAPPPKVLTS TATTPTATSS KATSSSSPRT ATTLPVLTST
ATKSTATSFT PIPSFTLGTT GTLPEQTTTP MATMSTIHPS STPETTHTST VLTTKATTTR
ATSSMSTPSS TPGTTWILTE LTTAATTTAA TGPTATPSST PGTTWILTEP STTATVTVPT
GSTATASSTR ATAGTLKVLT STATTPTVIS SRATPSSSPG TATALPALRS TATTPTATSV
TAIPSSSLGT AWTRLSQTTT PTATMSTATP SSTPETVHTS TVLTTTTTTT RATGSVATPS
STPGTAHTTK VPTTTTTGFT ATPSSSPGTA LTPPVWISTT TTPTTRGSTV TPSSIPGTTH
TATVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI TATGSTTNPS STPGTTPIPP
VLTTTATTPA ATSSTVTPSS ALGTTHTPPV PNTTATTHGR SLPPSSPHTV RTAWTSATSG
ILGTTHITEP STVTSHTPAA TTSTTQHSTP ALSSPHPSSR TTESPPSPGT TTPGHTRGTS
RTTATATPSK TRTSTLLPSS PTSAPITTVV TTGCEPQCAW SEWLDYSYPM PGPSGGDFDT
YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS LDFGLVCRNR EQVGKFKMCF
NYEIRVFCCN YGHCPSTPAT SSTATPSSTP GTTWILTKLT TTATTTESTG STATPSSTPG
TTWILTEPST TATVTVPTGS TATASSTQAT AGTPHVSTTA TTPTVTSSKA TPFSSPGTAT
ALPALRSTAT TPTATSFTAI PSSSLGTTWT RLSQTTTPTA TMSTATPSST PETAHTSTVL
TTTATTTRAT GSVATPSSTP GTAHTTKVPT TTTTGFTVTP SSSPGTARTP PVWISTTTTP
TTSGSTVTPS SVPGTTHTPT VLTTTTTTVA TGSMATPSSS TQTSGTPPSL ITTATTITAT
GSTTNPSSTP GTTPIPPVLT TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLS
PSSPHTVRTA WTSATSGTLG TTHITEPSTG TSHTPAATTG TTQHSTPALS SPHPSSRTTE
SPPSPGTTTP GHTTATSRTT ATATPSKTRT STLLPSSPTS APITTVVTTG CEPQCAWSEW
LDYSYPMPGP SGGDFDTYSN IRAAGGAVCE QPLGLECRAQ AQPGVPLGEL GQVVECSLDF
GLVCRNREQV GKFKMCFNYE IRVFCCNYGH CPSTPATSST AMPSSTPGTT WILTELTTTA
TTTASTGSTA TPSSTPGTAP PPKVLTSPAT TPTATSSKAT SSSSPRTATT LPVLTSTATK
STATSVTPIP SSTLGTTGTL PEQTTTPVAT MSTIHPSSTP ETTHTSTVLT TKATTTRATS
STSTPSSTPG TTWILTELTT AATTTAATGP TATPSSTPGT TWILTELTTT ATTTASTGST
ATPSSTPGTT WILTEPSTTA TVTVPTGSTA TASSTQATAG TPHVSTTATT PTVTSSKATP
SSSPGTATAL PALRSTATTP TATSFTAIPS SSLGTTWTRL SQTTTPTATM STATPSSTPE
TVHTSTVLTA TATTTGATGS VATPSSTPGT AHTTKVPTTT TTGFTATPSS SPGTALTPPV
WISTTTTPTT TTPTTSGSTV TPSSIPGTTH TARVLTTTTT TVATGSMATP SSSTQTSGTP
PSLTTTATTI TATGSTTNPS STPGTTPITP VLTSTATTPA ATSSKATSSS SPRTATTLPV
LTSTATKSTA TSFTPIPSST LWTTWTVPAQ TTTPMSTMST IHTSSTPETT HTSTVLTTTA
TMTRATNSTA TPSSTLGTTR ILTELTTTAT TTAATGSTAT LSSTPGTTWI LTEPSTIATV
MVPTGSTATA SSTLGTAHTP KVVTTMATMP TATASTVPSS STVGTTRTPA VLPSSLPTFS
VSTVSSSVLT TLRPTGFPSS HFSTPCFCRA FGQFFSPGEV IYNKTDRAGC HFYAVCNQHC
DIDRFQGACP TSPPPVSSAP LSSPSPAPGC DNAIPLRQVN ETWTLENCTV ARCVGDNRVV
LLDPKPVANV TCVNKHLPIK VSDPSQPCDF HYECECICSM WGGSHYSTFD GTSYTFRGNC
TYVLMREIHA RFGNLSLYLD NHYCTASATA AAARCPRALS IHYKSMDIVL TVTMVHGKEE
GLILFDQIPV SSGFSKNGVL VSVLGTTTMR VDIPALGVSV TFNGQVFQAR LPYSLFHNNT
EGQCGTCTNN QRDDCLQRDG TTAASCKDMA KTWLVPDSRK DGCWAPTGTP PTASPAAPVS
STPTPTPCPP QPLCDLMLSQ VFAECHNLVP PGPFFNACIS DHCRGRLEVP CQSLEAYAEL
CRARGVCSDW RGATGGLCDL TCPPTKVYKP CGPIQPATCN SRNQSPQLEG MAEGCFCPED
QILFNAHMGI CVQACPCVGP DGFPKFPGER WVSNCQSCVC DEGSVSVQCK PLPCDAQGQP
PPCNRPGFVT VTRPRAENPC CPETVCVCNT TTCPQSLPVC PPGQESICTQ EEGDCCPTFR
CRPQLCSYNG TFYGVGATFP GALPCHMCTC LSGDTQDPTV QCQEDACNNT TCPQGFEYKR
VAGQCCGECV QTACLTPDGQ PVQLNETWVN SHVDNCTVYL CEAEGGVHLL TPQPASCPDV
SSCRGSLRKT GCCYSCEEDS CQVRINTTIL WHQGCETEVN ITFCEGSCPG ASKYSAEAQA
MQHQCTCCQE RRVHEETVPL HCPNGSAILH TYTHVDECGC TPFCVPAPMA PPHTRGFPAQ
EATAV*
mutated AA sequence MGAPSACRTL VLALAAMLVV PQAETQGPVE PSWGNAGHTM DGGAPTSSPT RRVSFVPPVT
VFPSLSPLNP AHNGRVCSTW GDFHYKTFDG DVFRFPGLCN YVFSEHCRAA YEDFNVQLRR
GLVGSRPVVT RVVIKAQGLV LEASNGSVLI NGQREELPYS RTGLLVEQSG DYIKVSIRLV
LTFLWNGEDS ALLELDPKYA NQTCGLCGDF NGLPAFNEFY AHNARLTPLQ FGNLQKLDGP
TEQCPDPLPL PAGNCTDEEG ICHRTLLGPA FAECHALVDS TAYLAACAQD LCRCPTCPCA
TFVEYSRQCA HAGGQPRNWR CPELCPRTCP LNMQHQECGS PCTDTCSNPQ RAQLCEDHCV
DGCFCPPGRS CTVLDDITHS GCLPLGQCPC THGGRTYSPG TSFNTTCSSC TCSGGLWQCQ
DLPCPGTCSV QGGAHISTYD EKLYDLHGDC SYVLSKKCAD SSFTVLAELR KCGLTDNENC
LKAVTLSLDG GDTAIRVQAD GGVFLNSIYT QLPLSAANIT LFTPSSFFIV VQTGLGLQLL
VQLVPLMQVF VRLDPAHQGQ MCGLCGNFNQ NQADDFTALS GVVEATGAAF ANTWKAQAAC
ANARNSFEDP CSLSVENENY ARHWCSRLTD PNSAFSRCHS IINPKPFHSN CMFDTCNCER
SEDCLCAALS SYVHACAAKG VQLSDWRDGV CTKYMQNCPK SQRYAYVVDA CQPTCRGLSE
ADVTCSVSFV PVDGCTCPAG TFLNDAGACV PAQECPCYAH GTVLAPGEVV HDEGAVCSCT
GGKLSCLGAS LQKSTGCAAP MVYLDCSNSS AGTPGAECLR SCHTLDVGCF STHCVSGCVC
PPGLVSDGSG GCIAEEDCPC VHNEATYKPG ETIRVDCNTC TCRNRRWECS HRLCLGTCVA
YGDGHFITFD GDRYSFEGSC EYILAQDYCG DNTTHGTFRI VTENIPCGTT GTTCSKAIKL
FVESYELILQ EGTFKAVARG PGGDPPYKIR YMGIFLVIET HGMAVSWDRK TSVFIRLHQD
YKGRVCGLCG NFDDNAINDF ATRSRSVVGD ALEFGNSWKL SPSCPDALAP KDPCTANPFR
KSWAQKQCSI LHGPTFAACR SQVDSTKYYE ACVNDACACD SGGDCECFCT AVAAYAQACH
DAGLCVSWRT PDTCPLFCDF YNPHGGCEWH YQPCGAPCLK TCRNPSGHCL VDLPGLEGCY
PKCPPSQPFF NEDQMKCVAQ CGCYDKDGNY YDVGARVPTA ENCQSCNCTP SGIQCAHSLE
ACTCTYEDRT YSYQDVIYNT TDGLGACLIA ICGSNGTIIR KAVACPGTPA TTPFTFTTAW
VPHSTTSPAL PVSTVCVREV CRWSSWYNGH RPEPGLGGGD FETFENLRQR GYQVCPVLAD
IECRAAQLPD MPLEELGQQV DCDRMRGLMC ANSQQSPPLC HDYELRVLCC EYVPCGPSPA
PGTSPQPSLS ASTEPAVPTP TQTTATEKTT LWVTPSIRST AALTSQTGSS SGPVTVTPSA
PGTTTCQPRC QWTEWFDEDY PKSEQLGGDV ESYDKIRAAG GHLCQQPKDI ECQAESFPNW
TLAQVGQKVH CDVHFGLVCR NWEQEGVFKM CYNYRIRVLC CSDDHCRGRA TTPPPTTELE
TATTTTTQAL FSTPQPTSSP GLTRAPPAST TAVPTLSEGL TSPRYTSTLG TATTGGPTTP
AGSTEPTVPG VATSTLPTRS ALPGTTGSLG TWRPSQPPTL APTTMATSRA RPTGTASTAS
KEPLTTSLAP TLTSELSTSQ AETSTPRTET TMSPLTNTTT SQGTTRCQPK CEWTEWFDVD
FPTSGVAGGD METFENIRAA GGKMCWAPKS IECRAENYPE VSIDQVGQVL TCSLETGLTC
KNEDQTGRFN MCFNYNVRVL CCDDYSHCPS TPATSSTATP SSTPGTTWIL TKPTTTATTT
ASTGSTATPT STLRTAPPPK VLTTTATTPT VTSSKATPSS SPGTATALPA LRSTATTPTA
TSVTPIPSSS LGTTWTRLSQ TTTPTATMST ATPSSTPETA HTSTVLTATA TTTGATGSVA
TPSSTPGTAH TTKVPTTTTT GFTATPSSSP GTALTPPVWI STTTTPTTRG STVTPSSIPG
TTHTATVLTT TTTTVATGSM ATPSSSTQTS GTPPSLTTTA TTITATGSTT NPSSTPGTTP
IPPVLTTTAT TPAATSNTVT PSSALGTTHT PPVPNTMATT HGRSLPPSSP HTVRTAWTSA
TSGILGTTHI TEPSTVTSHT LAATTGTTQH STPALSSPHP SSRTTESPPS PGTTTPGHTT
ATSRTTATAT PSKTRTSTLL PSSPTSAPIT TVVTMGCEPQ CAWSEWLDYS YPMPGPSGGD
FDTYSNIRAA GGAVCEQPLG LECRAQAQPG VPLRELGQVV ECSLDFGLVC RNREQVGKFK
MCFNYEIRVF CCNYGHCPST PATSSTAMPS STPGTTWILT ELTTTATTTE STGSTATPSS
TPGTTWILTE PSTTATVTVP TGSTATASST QATAGTPHVS TTATTPTVTS SKATPFSSPG
TATALPALRS TATTPTATSF TAIPSSSLGT TWTRLSQTTT PTATMSTATP SSTPETVHTS
TVLTTTATTT GATGSVATPS STPGTAHTTK VLTTTTTGFT ATPSSSPGTA RTLPVWISTT
TTPTTRGSTV TPSSIPGTTH TPTVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI
TATGSTTNPS STPGTTPIPP VLTTTATTPA ATSSTVTPSS ALGTTHTPPV PNTTATTHGR
SLSPSSPHTV RTAWTSATSG TLGTTHITEP STGTSHTPAA TTGTTQHSTP ALSSPHPSSR
TTESPPSPGT TTPGHTRATS RTTATATPSK TRTSTLLPSS PTSAPITTVV TMGCEPQCAW
SEWLDYSYPM PGPSGGDFDT YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS
LDFGLVCRNR EQVGKFKMCF NYEIRVFCCN YGHCPSTPAT SSTATPSSTP GTTWILTEQT
TAATTTATTG STAIPSSTPG TAPPPKVLTS TATTPTATSS KATSSSSPRT ATTLPVLTST
ATKSTATSFT PIPSFTLGTT GTLPEQTTTP MATMSTIHPS STPETTHTST VLTTKATTTR
ATSSMSTPSS TPGTTWILTE LTTAATTTAA TGPTATPSST PGTTWILTEP STTATVTVPT
GSTATASSTR ATAGTLKVLT STATTPTVIS SRATPSSSPG TATALPALRS TATTPTATSV
TAIPSSSLGT AWTRLSQTTT PTATMSTATP SSTPETVHTS TVLTTTTTTT RATGSVATPS
STPGTAHTTK VPTTTTTGFT ATPSSSPGTA LTPPVWISTT TTPTTRGSTV TPSSIPGTTH
TATVLTTTTT TVATGSMATP SSSTQTSGTP PSLTTTATTI TATGSTTNPS STPGTTPIPP
VLTTTATTPA ATSSTVTPSS ALGTTHTPPV PNTTATTHGR SLPPSSPHTV RTAWTSATSG
ILGTTHITEP STVTSHTPAA TTSTTQHSTP ALSSPHPSSR TTESPPSPGT TTPGHTRGTS
RTTATATPSK TRTSTLLPSS PTSAPITTVV TTGCEPQCAW SEWLDYSYPM PGPSGGDFDT
YSNIRAAGGA VCEQPLGLEC RAQAQPGVPL RELGQVVECS LDFGLVCRNR EQVGKFKMCF
NYEIRVFCCN YGHCPSTPAT SSTATPSSTP GTTWILTKLT TTATTTESTG STATPSSTPG
TTWILTEPST TATVTVPTGS TATASSTQAT AGTPHVSTTA TTPTVTSSKA TPFSSPGTAT
ALPALRSTAT TPTATSFTAI PSSSLGTTWT RLSQTTTPTA TMSTATPSST PETAHTSTVL
TTTATTTRAT GSVATPSSTP GTAHTTKVPT TTTTGFTVTP SSSPGTARTP PVWISTTTTP
TTSGSTVTPS SVPGTTHTPT VLTTTTTTVA TGSMATPSSS TQTSGTPPSL ITTATTITAT
GSTTNPSSTP GTTPIPPVLT TTATTPAATS STVTPSSALG TTHTPPVPNT TATTHGRSLS
PSSPHTVRTA WTSATSGTLG TTHITEPSTG TSHTPAATTG TTQHSTPALS SPHPSSRTTE
SPPSPGTTTP GHTTATSRTT ATATPSKTRT STLLPSSPTS APITTVVTTG CEPQCAWSEW
LDYSYPMPGP SGGDFDTYSN IRAAGGAVCE QPLGLECRAQ AQPGVPLGEL GQVVECSLDF
GLVCRNREQV GKFKMCFNYE IRVFCCNYGH CPSTPATSST AMPSSTPGTT WILTELTTTA
TTTASTGSTA TPSSTPGTAP PPKVLTSPAT TPTATSSKAT SSSSPRTATT LPVLTSTATK
STATSVTPIP SSTLGTTGTL PEQTTTPVAT MSTIHPSSTP ETTHTSTVLT TKATTTRATS
STSTPSSTPG TTWILTELTT AATTTAATGP TATPSSTPGT TWILTELTTT ATTTASTGST
ATPSSTPGTT WILTEPSTTA TVTVPTGSTA TASSTQATAG TPHVSTTATT PTVTSSKATP
SSSPGTATAL PALRSTATTP TATSFTAIPS SSLGTTWTRL SQTTTPTATM STATPSSTPE
TVHTSTVLTA TATTTGATGS VATPSSTPGT AHTTKVPTTT TTGFTATPSS SPGTALTPPV
WISTTTTPTT TTPTTSGSTV TPSSIPGTTH TARVLTTTTT TVATGSMATP SSSTQTSGTP
PSLTTTATTI TATGSTTNPS STPGTTPITP VLTSTATTPA ATSSKATSSS SPRTATTLPV
LTSTATKSTA TSFTPIPSST LWTTWTVPAQ TTTPMSTMST IHTSSTPETT HTSTVLTTTA
TMTRATNSTA TPSSTLGTTR ILTELTTTAT TTAATGSTAT LSSTPGTTWI LTEPSTIATV
MVPTGSTATA SSTLGTAHTP KVVTTMATMP TATASTVPSS STVGTTRTPA VLPSSLPTFS
VSTVSSSVLT TLRPTGFPSS HFSTPCFCRA FGQFFSPGEV IYNKTDRAGC HFYAVCNQHC
DIDRFQGACP TSPPPVSSAP LSSPSPAPGC DNAIPLRQVN ETWTLENCTV ARCVGDNRVV
LLDPKPVANV TCVNKHLPIK VSDPSQPCDF HYECECICSM WGGSHYSTFD GTSYTFRGNC
TYVLMREIHA RFGNLSLYLD NHYCTASATA AAARCPRALS IHYKSMDIVL TVTMVHGKEE
GLILFDQIPV SSGFSKNGVL VSVLGTTTMR VDIPALGVSV TFNGQVFQAR LPYSLFHNNT
EGQCGTCTNN QRDDCLQRDG TTAASCKDMA KTWLVPDSRK DGCWAPTGTP PTASPAAPVS
STPTPTPCPP QPLCDLMLSQ VFAECHNLVP PGPFFNACIS DHCRGRLEVP CQSLEAYAEL
CRARGVCSDW RGATGGLCDL TCPPTKVYKP CGPIQPATCN SRNQSPQLEG MAEGCFCPED
QILFNAHMGI CVQACPCVGP DGFPKFPGER WVSNCQSCVC DEGSVSVQCK PLPCDAQGQP
PPCNRPGFVT VTRPRAENPC CPETVCVCNT TTCPQSLPVC PPGQESICTQ EEGDCCPTFR
CRPQLCSYNG TFYGVGATFP GALPCHMCTC LSGDTQDPTV QCQEDACNNT TCPQGFEYKR
VAGQCCGECV QTACLTPDGQ PVQLNETWVN SHVDNCTVYL CEAEGGVHLL TPQPASCPDV
SSCRGSLRKT GCCYSCEEDS CQVRINTTIL WHQGCETEVN ITFCEGSCPG ASKYSAEAQA
MQHQCTCCQE RRVHEETVPL HCPNGSAILH TYTHVDECGC TPFCVPAPMA PPHTRGFPAQ
EATAV*
speed 0.23 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