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MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000298705
MT speed 1.39 s - this script 5.671389 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PPP1R36polymorphism_automatic7.88036302878936e-13simple_aaeaffectedT83Isingle base exchangers6573560show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999212 (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) chr14:65031534C>TN/A show variant in all transcripts   IGV
HGNC symbol PPP1R36
Ensembl transcript ID ENST00000298705
Genbank transcript ID NM_172365
UniProt peptide Q96LQ0
alteration type single base exchange
alteration region CDS
DNA changes c.248C>T
cDNA.344C>T
g.14915C>T
AA changes T83I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
83
frameshift no
known variant Reference ID: rs6573560
databasehomozygous (T/T)heterozygousallele carriers
1000G98411262110
ExAC19993-721912774
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4920.318
-1.0230.035
(flanking)-0.0330.053
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained149080.48mu: ACTTTGCAGAAATTG TTTG|caga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83GKKGKAVHFAETDGPASDRLTDKR
mutated  not conserved    83GKKGKAVHFAEIDGPASDRLTDK
Ptroglodytes  not conserved  ENSPTRG00000006440  83GKKGKAVHFAEIDGPASDRLTDK
Mmulatta  not conserved  ENSMMUG00000000493  84GKKGKAVHFAEIDGPASDRLTDK
Fcatus  not conserved  ENSFCAG00000007821  85GKKGKAIHFAEIDGPASDXXXXX
Mmusculus  not conserved  ENSMUSG00000052221  75GKKGKAVHFAEMDSGASERLTDK
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 
388388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
392392MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
413413MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
418418MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1269 / 1269
position (AA) of stopcodon in wt / mu AA sequence 423 / 423
position of stopcodon in wt / mu cDNA 1365 / 1365
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 97 / 97
chromosome 14
strand 1
last intron/exon boundary 1179
theoretical NMD boundary in CDS 1032
length of CDS 1269
coding sequence (CDS) position 248
cDNA position
(for ins/del: last normal base / first normal base)
344
gDNA position
(for ins/del: last normal base / first normal base)
14915
chromosomal position
(for ins/del: last normal base / first normal base)
65031534
original gDNA sequence snippet AGCAGTTCACTTTGCAGAAACTGATGGTCCAGCTTCAGACA
altered gDNA sequence snippet AGCAGTTCACTTTGCAGAAATTGATGGTCCAGCTTCAGACA
original cDNA sequence snippet AGCAGTTCACTTTGCAGAAACTGATGGTCCAGCTTCAGACA
altered cDNA sequence snippet AGCAGTTCACTTTGCAGAAATTGATGGTCCAGCTTCAGACA
wildtype AA sequence MYRVPEFYAR RKRLGGQTPY LMDQLGLRLG MWYWKDETRT LEFRRFAAED SVQWLLKHHP
HFTPAAEVKE KGKKGKAVHF AETDGPASDR LTDKRLAAKD DKSAKAVEKR GQQGTITLDD
VKFVTLLLLQ DTEMQRICSF TTFMRNKNLD NFLMALLYYL SHYLEKNSLE KKPKSYMVGL
VEKKEMELVL SELEAAQRYL AQKYCILVLG LAVPDKHHMC CGKEKISDTQ KDWKFFESFY
TFCTYVAWIV FRRQHLTEIE EEVGRLFRTN MFNIPRRRRE DEESGGEKKR MTFVQFRRMM
AKRPAIKKAI NMRSPVMSTL LPSLREKAQN VFEKKYHQVD VRFPAEMQKH VGTLDSVPMP
VVGILGEPRC LFNPHTLHPL DPEENTKSFG RYPSLMENNN MRIQDTLDLV MKTLSSHTSC
PK*
mutated AA sequence MYRVPEFYAR RKRLGGQTPY LMDQLGLRLG MWYWKDETRT LEFRRFAAED SVQWLLKHHP
HFTPAAEVKE KGKKGKAVHF AEIDGPASDR LTDKRLAAKD DKSAKAVEKR GQQGTITLDD
VKFVTLLLLQ DTEMQRICSF TTFMRNKNLD NFLMALLYYL SHYLEKNSLE KKPKSYMVGL
VEKKEMELVL SELEAAQRYL AQKYCILVLG LAVPDKHHMC CGKEKISDTQ KDWKFFESFY
TFCTYVAWIV FRRQHLTEIE EEVGRLFRTN MFNIPRRRRE DEESGGEKKR MTFVQFRRMM
AKRPAIKKAI NMRSPVMSTL LPSLREKAQN VFEKKYHQVD VRFPAEMQKH VGTLDSVPMP
VVGILGEPRC LFNPHTLHPL DPEENTKSFG RYPSLMENNN MRIQDTLDLV MKTLSSHTSC
PK*
speed 1.39 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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