Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999512 (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) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000349607
Genbank transcript ID NM_138297
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.110G>A
cDNA.150G>A
g.38000G>A
AA changes G37D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 37
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG		 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC		 ccta|TGGG
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC		 ccct|ATGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC		 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      37VPGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    37VPGVSLFPYGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2383LPDQGISLFPYGSEVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
161161CARBOHYDO-linked (GalNAc...) (Potential).might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
260260CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
7931013COMPBIASSer-rich.might get lost (downstream of altered splice site)
10021038REGIONRepeat.might get lost (downstream of altered splice site)
11541309DOMAINNIDO.might get lost (downstream of altered splice site)
11941194CONFLICTM -> I (in Ref. 1; CAB85602/CAB85603/ CAB85604/CAB85605/CAB85606, 2; CAB81773/ CAC14141/CAC14142/CAC14143, 3; AAM66747, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
12591259CONFLICTN -> K (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
12711271CONFLICTY -> F (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13051305CONFLICTR -> G (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13101425DOMAINAMOP.might get lost (downstream of altered splice site)
14381673DOMAINVWFD.might get lost (downstream of altered splice site)
14441445SITECleavage.might get lost (downstream of altered splice site)
14721472CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251525CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15441544CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15531553CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15571557CONFLICTV -> A (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
15881588CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16321632CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16591659CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16851685CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17391739CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17541754CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18021802CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18091809CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
18571857CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18751914DOMAINEGF-like 1.might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18791879DISULFIDBy similarity.might get lost (downstream of altered splice site)
18841884DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
19021902DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19131913DISULFIDBy similarity.might get lost (downstream of altered splice site)
19201921CONFLICTMissing (in Ref. 2; CAC14143).might get lost (downstream of altered splice site)
19421942CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19491949CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20392039CONFLICTG -> E (in Ref. 1; CAB85604/CAB85605/ CAB85606, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
20492049CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20782117DOMAINEGF-like 2.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20862086DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21012101DISULFIDBy similarity.might get lost (downstream of altered splice site)
21032103DISULFIDBy similarity.might get lost (downstream of altered splice site)
21162116DISULFIDBy similarity.might get lost (downstream of altered splice site)
21262146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3378 / 3378
position (AA) of stopcodon in wt / mu AA sequence 1126 / 1126
position of stopcodon in wt / mu cDNA 3418 / 3418
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 41 / 41
chromosome 3
strand -1
last intron/exon boundary 3214
theoretical NMD boundary in CDS 3123
length of CDS 3378
coding sequence (CDS) position 110
cDNA position
(for ins/del: last normal base / first normal base)		 150
gDNA position
(for ins/del: last normal base / first normal base)		 38000
chromosomal position
(for ins/del: last normal base / first normal base)		 195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGVS LFPYGAGAGD LEFVRRTVDF TSPLFKPATG
FPLGSSLRDS LYFTDNGQII FPESDYQIFS YPNPLPTGFT GRDPVALVAP FWDDADFSTG
RGTTFYQEYE TFYGEHSLLV QQAESWIRKM TNNGGYKARW ALKVTWVNAH AYPAQWTLGS
NTYQAILSTD GSRSYALFLY QSGGMQWDVA QRSGNPVLMG FSSGDGYFEN SPLMSQPVWE
RYRPDRFLNS NSGLQGLQFY RLHREERPNY RLECLQWLKS QPRWPSWGWN QVSCPCSWQQ
GRRDLRFQPV SIGRWGLGSR QLCSFTSWRG GVCCSYGPWG EFREGWHVQR PWQLAQELEP
QSWCCRWNDK PYLCALYQQR RPHVGCATYR PPQPAWMFGD PHITTLDGVS YTFNGLGDFL
LVGAQDGNSS FLLQGRTAQT GSAQATNFIA FAAQYRSSSL GPVTVQWLLE PHDAIRVLLD
NQTVTFQPDH EDGGGQETFN ATGVLLSRNG SEVSASFDGW ATVSVIALSN ILHASASLPP
EYQNRTEGLL GVWNNNPEDD FRMPNGSTIP PGSPEEMLFH FGMTWQINGT GLLGKRNDQL
PSNFTPVFYS QLQKNSSWAE HLISNCDGDS SCIYDTLALR NASIGLHTRE VSKNYEQANA
TLNQYPPSIN GGRVIEAYKG QTTLIQYTSN AEDANFTLRD SCTDLELFEN GTLLWTPKSL
EPFTLEILAR SAKIGLASAL QPRTVVCHCN AESQCLYNQT SRVGNSSLEV AGCKCDGGTF
GRYCEGSEDA CEEPCFPSVH CVPGKGCEAC PPNLTGDGRH CAALGSSFLC QNQSCPVNYC
YNQGHCYISQ TLGCQPMCTC PPAFTDSRCF LAGNNFSPTV NLELPLRVIQ LLLSEEENAS
MAEVNASVAY RLGTLDMRAF LRNSQVERID SAAPASGSPI QHWMVISEFQ YRPRGPVIDF
LNNQLLAAVV EAFLYHVPRR SEEPRNDVVF QPISGEDVRD VTALNVSTLK AYFRCDGYKG
YDLVYSPQSG FTCVSPCSRG YCDHGGQCQH LPSGPRCSCV SFSIYTAWGE HCEHLSMKLD
AFFGIFFGAL GGLLLLGVGT FVVLRFWGCS GARFSYFLNS AEALP*
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGVS LFPYGADAGD LEFVRRTVDF TSPLFKPATG
FPLGSSLRDS LYFTDNGQII FPESDYQIFS YPNPLPTGFT GRDPVALVAP FWDDADFSTG
RGTTFYQEYE TFYGEHSLLV QQAESWIRKM TNNGGYKARW ALKVTWVNAH AYPAQWTLGS
NTYQAILSTD GSRSYALFLY QSGGMQWDVA QRSGNPVLMG FSSGDGYFEN SPLMSQPVWE
RYRPDRFLNS NSGLQGLQFY RLHREERPNY RLECLQWLKS QPRWPSWGWN QVSCPCSWQQ
GRRDLRFQPV SIGRWGLGSR QLCSFTSWRG GVCCSYGPWG EFREGWHVQR PWQLAQELEP
QSWCCRWNDK PYLCALYQQR RPHVGCATYR PPQPAWMFGD PHITTLDGVS YTFNGLGDFL
LVGAQDGNSS FLLQGRTAQT GSAQATNFIA FAAQYRSSSL GPVTVQWLLE PHDAIRVLLD
NQTVTFQPDH EDGGGQETFN ATGVLLSRNG SEVSASFDGW ATVSVIALSN ILHASASLPP
EYQNRTEGLL GVWNNNPEDD FRMPNGSTIP PGSPEEMLFH FGMTWQINGT GLLGKRNDQL
PSNFTPVFYS QLQKNSSWAE HLISNCDGDS SCIYDTLALR NASIGLHTRE VSKNYEQANA
TLNQYPPSIN GGRVIEAYKG QTTLIQYTSN AEDANFTLRD SCTDLELFEN GTLLWTPKSL
EPFTLEILAR SAKIGLASAL QPRTVVCHCN AESQCLYNQT SRVGNSSLEV AGCKCDGGTF
GRYCEGSEDA CEEPCFPSVH CVPGKGCEAC PPNLTGDGRH CAALGSSFLC QNQSCPVNYC
YNQGHCYISQ TLGCQPMCTC PPAFTDSRCF LAGNNFSPTV NLELPLRVIQ LLLSEEENAS
MAEVNASVAY RLGTLDMRAF LRNSQVERID SAAPASGSPI QHWMVISEFQ YRPRGPVIDF
LNNQLLAAVV EAFLYHVPRR SEEPRNDVVF QPISGEDVRD VTALNVSTLK AYFRCDGYKG
YDLVYSPQSG FTCVSPCSRG YCDHGGQCQH LPSGPRCSCV SFSIYTAWGE HCEHLSMKLD
AFFGIFFGAL GGLLLLGVGT FVVLRFWGCS GARFSYFLNS AEALP*
speed 0.28 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