Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995787505 (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) chr11:26586801G>AN/A show variant in all transcripts   IGV
HGNC symbol MUC15
Ensembl transcript ID ENST00000455601
Genbank transcript ID NM_145650
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.605C>T
cDNA.724C>T
g.6980C>T
AA changes T202I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 202
frameshift no
known variant Reference ID: rs15783
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6990wt: 0.74 / mu: 0.91wt: ACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGCC
mu: ACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGCC		 tcaa|GAAA
Acc marginally increased6989wt: 0.9310 / mu: 0.9645 (marginal change - not scored)wt: CACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTACAGC
mu: CACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTACAGC		 atca|AGAA
Acc increased6982wt: 0.45 / mu: 0.57wt: ATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACT
mu: ATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACT		 accc|CTTA
Acc increased6986wt: 0.33 / mu: 0.51wt: CTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTAC
mu: CTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTAC		 ctta|TCAA
Acc increased6985wt: 0.27 / mu: 0.38wt: GCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAACTCTA
mu: GCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAACTCTA		 cctt|ATCA
Donor marginally increased6985wt: 0.7651 / mu: 0.7861 (marginal change - not scored)wt: CCCCTTATCAAGAAA
mu: TCCCTTATCAAGAAA		 CCTT|atca
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      202LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    202LTTNSDSFTGFIPYQEKTTLQPT
Ptroglodytes  all identical  ENSPTRG00000003450  229LTTNSDSFTGFTPYQEKTTLQPT
Mmulatta  all identical  ENSMMUG00000012926  202LTTNSDSFTGFTPYQEKTTLQPT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000050808  199LPTNNDNFAGFTPYQEKTTLQPT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24236TOPO_DOMExtracellular (Potential).lost
218218CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
237257TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
258334TOPO_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 1005 / 1005
position (AA) of stopcodon in wt / mu AA sequence 335 / 335
position of stopcodon in wt / mu cDNA 1124 / 1124
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 120 / 120
chromosome 11
strand -1
last intron/exon boundary 964
theoretical NMD boundary in CDS 794
length of CDS 1005
coding sequence (CDS) position 605
cDNA position
(for ins/del: last normal base / first normal base)		 724
gDNA position
(for ins/del: last normal base / first normal base)		 6980
chromosomal position
(for ins/del: last normal base / first normal base)		 26586801
original gDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered gDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
original cDNA sequence snippet TGATAGCTTCACTGGGTTTACCCCTTATCAAGAAAAAACAA
altered cDNA sequence snippet TGATAGCTTCACTGGGTTTATCCCTTATCAAGAAAAAACAA
wildtype AA sequence MLALAKILLI STLFYSLLSG SHGKENQDIN TTQNIAEVFK TMENKPISLE SEANLNSDKE
NITTSNLKAS HSPPLNLPNN SHGITDFSSN SSAEHSLGSL KPTSTISTSP PLIHSFVSKV
PWNAPIADED LLPISAHPNA TPALSSENFT WSLVNDTVKT PDNSSITVSI LSSEPTSPSV
TPLIVEPSGW LTTNSDSFTG FTPYQEKTTL QPTLKFTNNS KLFPNTSDPQ KENRNTGIVF
GAILGAILGV SLLTLVGYLL CGKRKTDSFS HRRLYDDRNE PVLRLDNAPE PYDVSFGNSS
YYNPTLNDSA MPESEENARD GIPMDDIPPL RTSV*
mutated AA sequence MLALAKILLI STLFYSLLSG SHGKENQDIN TTQNIAEVFK TMENKPISLE SEANLNSDKE
NITTSNLKAS HSPPLNLPNN SHGITDFSSN SSAEHSLGSL KPTSTISTSP PLIHSFVSKV
PWNAPIADED LLPISAHPNA TPALSSENFT WSLVNDTVKT PDNSSITVSI LSSEPTSPSV
TPLIVEPSGW LTTNSDSFTG FIPYQEKTTL QPTLKFTNNS KLFPNTSDPQ KENRNTGIVF
GAILGAILGV SLLTLVGYLL CGKRKTDSFS HRRLYDDRNE PVLRLDNAPE PYDVSFGNSS
YYNPTLNDSA MPESEENARD GIPMDDIPPL RTSV*
speed 0.59 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