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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: ENST00000375662
MT speed 1.13 s - this script 6.664568 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FAM131Cpolymorphism_automatic0.294840284393722simple_aaeaffectedK48Esingle base exchangers2863458show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.705159715606278 (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) chr1:16389026T>CN/A show variant in all transcripts   IGV
HGNC symbol FAM131C
Ensembl transcript ID ENST00000375662
Genbank transcript ID NM_182623
UniProt peptide Q96AQ9
alteration type single base exchange
alteration region CDS
DNA changes c.142A>G
cDNA.326A>G
g.11102A>G
AA changes K48E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS
48
frameshift no
known variant Reference ID: rs2863458
databasehomozygous (C/C)heterozygousallele carriers
1000G2859241209
ExAC24331191314346
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5131
1.2181
(flanking)1.4981
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 increased11099wt: 0.8201 / mu: 0.8268 (marginal change - not scored)wt: TCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGT
mu: TCTCTCTCCTCTTGTTTTAGGACGAACAGATGGATTTCTGT
 tagg|ACAA
Acc marginally increased11096wt: 0.7876 / mu: 0.8025 (marginal change - not scored)wt: TCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTC
mu: TCCTCTCTCTCCTCTTGTTTTAGGACGAACAGATGGATTTC
 tttt|AGGA
Acc marginally increased11095wt: 0.9693 / mu: 0.9780 (marginal change - not scored)wt: ATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTT
mu: ATCCTCTCTCTCCTCTTGTTTTAGGACGAACAGATGGATTT
 gttt|TAGG
Acc marginally increased11098wt: 0.9844 / mu: 0.9888 (marginal change - not scored)wt: CTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTG
mu: CTCTCTCTCCTCTTGTTTTAGGACGAACAGATGGATTTCTG
 ttag|GACA
Donor marginally increased11106wt: 0.5333 / mu: 0.5710 (marginal change - not scored)wt: CAAACAGATGGATTT
mu: CGAACAGATGGATTT
 AACA|gatg
Donor gained111010.47mu: TAGGACGAACAGATG GGAC|gaac
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48TVAPDCVIGKDKQMDFCWDPWQRC
mutated  all conserved    48TVAPDCVIGKDEQMDFCWDPWQR
Ptroglodytes  all identical  ENSPTRG00000000220  48TVAPDRVIGKDKQMDFCWDPWQR
Mmulatta  all identical  ENSMMUG00000018243  41TMAVDPVTGKDKQMDFCWDPWQR
Fcatus  all identical  ENSFCAG00000010169  40AVAPDHVTGKDKQMDFCWDPWQ-
Mmusculus  all identical  ENSMUSG00000006218  48AIVPDHVAGKDKQMDFCWDPWQR
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000001683  n/a
Drerio  no alignment  ENSDARG00000037320  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
214264COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 843 / 843
position (AA) of stopcodon in wt / mu AA sequence 281 / 281
position of stopcodon in wt / mu cDNA 1027 / 1027
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 185 / 185
chromosome 1
strand -1
last intron/exon boundary 747
theoretical NMD boundary in CDS 512
length of CDS 843
coding sequence (CDS) position 142
cDNA position
(for ins/del: last normal base / first normal base)
326
gDNA position
(for ins/del: last normal base / first normal base)
11102
chromosomal position
(for ins/del: last normal base / first normal base)
16389026
original gDNA sequence snippet CTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGG
altered gDNA sequence snippet CTCTCCTCTTGTTTTAGGACGAACAGATGGATTTCTGTTGG
original cDNA sequence snippet ACTGTGTCATTGGCAAGGACAAACAGATGGATTTCTGTTGG
altered cDNA sequence snippet ACTGTGTCATTGGCAAGGACGAACAGATGGATTTCTGTTGG
wildtype AA sequence MGSCVSRDLF TSAHKNCPMP QGADPLNPDL PSGRTPTVAP DCVIGKDKQM DFCWDPWQRC
FQTTNGYLSD SRSRPGNYNV AALATSSLVG VVQSIKDHIT KPTAMARGRV AHLIEWKGWS
AQPAGWELSP AEDEHYCCLP DELREARFAA GVAEQFAITE ATLSAWSSLD EEELHPENSP
QGIVQLQDLE SIYLQDSLPS GPSQDDSLQA FSSPSPSPDS CPSPEEPPST AGIPQPPSPE
LQHRRRLPGA QGPEGGTHPP GSLPSMDSGS LWEEDEVFYN *
mutated AA sequence MGSCVSRDLF TSAHKNCPMP QGADPLNPDL PSGRTPTVAP DCVIGKDEQM DFCWDPWQRC
FQTTNGYLSD SRSRPGNYNV AALATSSLVG VVQSIKDHIT KPTAMARGRV AHLIEWKGWS
AQPAGWELSP AEDEHYCCLP DELREARFAA GVAEQFAITE ATLSAWSSLD EEELHPENSP
QGIVQLQDLE SIYLQDSLPS GPSQDDSLQA FSSPSPSPDS CPSPEEPPST AGIPQPPSPE
LQHRRRLPGA QGPEGGTHPP GSLPSMDSGS LWEEDEVFYN *
speed 1.13 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
back to results table

Problems