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 ENST00000281268
Genbank transcript ID NM_001135092
UniProt peptide Q8N387
alteration type single base exchange
alteration region CDS
DNA changes c.686C>T
cDNA.820C>T
g.6980C>T
AA changes T229I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 229
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      229LTTNSDSFTGFTPYQEKTTLQPTL
mutated  not conserved    229LTTNSDSFTGFIPYQEKTTLQPT
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
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 936 / 936
position (AA) of stopcodon in wt / mu AA sequence 312 / 312
position of stopcodon in wt / mu cDNA 1070 / 1070
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 135 / 135
chromosome 11
strand -1
last intron/exon boundary 910
theoretical NMD boundary in CDS 725
length of CDS 936
coding sequence (CDS) position 686
cDNA position
(for ins/del: last normal base / first normal base)		 820
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 MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFTP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
mutated AA sequence MGIIQSILAT SRDCYSFKKK PIPKKPTMLA LAKILLISTL FYSLLSGSHG KENQDINTTQ
NIAEVFKTME NKPISLESEA NLNSDKENIT TSNLKASHSP PLNLPNNSHG ITDFSSNSSA
EHSLGSLKPT STISTSPPLI HSFVSKVPWN APIADEDLLP ISAHPNATPA LSSENFTWSL
VNDTVKTPDN SSITVSILSS EPTSPSVTPL IVEPSGWLTT NSDSFTGFIP YQEKTTLQPT
LKFTNNSKLF PNTSDPQKVL RLDNAPEPYD VSFGNSSYYN PTLNDSAMPE SEENARDGIP
MDDIPPLRTS V*
speed 0.56 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