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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: ENST00000300870
MT speed 1.23 s - this script 5.448915 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF267polymorphism_automatic5.31996668939883e-12simple_aaeaffectedC350Ysingle base exchangers3850114show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999468 (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) chr16:31926619G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF267
Ensembl transcript ID ENST00000300870
Genbank transcript ID NM_001265588
UniProt peptide Q14586
alteration type single base exchange
alteration region CDS
DNA changes c.1049G>A
cDNA.1258G>A
g.41541G>A
AA changes C350Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
350
frameshift no
known variant Reference ID: rs3850114
databasehomozygous (A/A)heterozygousallele carriers
1000G19364102346
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7090.152
-0.6310.018
(flanking)0.0450.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased41546wt: 0.9978 / mu: 0.9983 (marginal change - not scored)wt: GTAAATGGAAAGAAT
mu: ATAAATGGAAAGAAT
 AAAT|ggaa
Donor gained415410.61mu: ACCCTATAAATGGAA CCTA|taaa
Donor gained415390.38mu: AAACCCTATAAATGG ACCC|tata
distance from splice site 823
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      350QHQIIPTEEKPCKWKECGKVFNLN
mutated  not conserved    350QHQIIPTEEKPYKWKECGKVFN
Ptroglodytes  not conserved  ENSPTRG00000008053  350QHQIIPTEEKPYKWKEYGKVFN
Mmulatta  not conserved  ENSMMUG00000008253  347QHQIIPTEEKPYKWKECGKVFNL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033883  370IHQYIHIQDQISKDMDCDTAFSQ
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 
380402ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
424424MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
520520MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
548570ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
567567CONFLICTH -> Y (in Ref. 1; AAF73867 and 4; CAA55525).might get lost (downstream of altered splice site)
576598ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
592592CONFLICTT -> S (in Ref. 1; AAF73867 and 4; CAA55525).might get lost (downstream of altered splice site)
604626ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
632654ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
660682ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
688710ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
716738ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2232 / 2232
position (AA) of stopcodon in wt / mu AA sequence 744 / 744
position of stopcodon in wt / mu cDNA 2441 / 2441
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 210 / 210
chromosome 16
strand 1
last intron/exon boundary 436
theoretical NMD boundary in CDS 176
length of CDS 2232
coding sequence (CDS) position 1049
cDNA position
(for ins/del: last normal base / first normal base)
1258
gDNA position
(for ins/del: last normal base / first normal base)
41541
chromosomal position
(for ins/del: last normal base / first normal base)
31926619
original gDNA sequence snippet TCCTACCGAAGAGAAACCCTGTAAATGGAAAGAATGTGGCA
altered gDNA sequence snippet TCCTACCGAAGAGAAACCCTATAAATGGAAAGAATGTGGCA
original cDNA sequence snippet TCCTACCGAAGAGAAACCCTGTAAATGGAAAGAATGTGGCA
altered cDNA sequence snippet TCCTACCGAAGAGAAACCCTATAAATGGAAAGAATGTGGCA
wildtype AA sequence MGLLTFRDVA VEFSLEEWEH LEPAQKNLYQ DVMLENYRNL VSLGLVVSKP DLITFLEQRK
EPWNVKSEET VAIQPDVFSH YNKDLLTEHC TEASFQKVIS RRHGSCDLEN LHLRKRWKRE
ECEGHNGCYD EKTFKYDQFD ESSVESLFHQ QILSSCAKSY NFDQYRKVFT HSSLLNQQEE
IDIWGKHHIY DKTSVLFRQV STLNSYRNVF IGEKNYHCNN SEKTLNQSSS PKNHQENYFL
EKQYKCKEFE EVFLQSMHGQ EKQEQSYKCN KCVEVCTQSL KHIQHQTIHI RENSYSYNKY
DKDLSQSSNL RKQIIHNEEK PYKCEKCGDS LNHSLHLTQH QIIPTEEKPC KWKECGKVFN
LNCSLYLTKQ QQIDTGENLY KCKACSKSFT RSSNLIVHQR IHTGEKPYKC KECGKAFRCS
SYLTKHKRIH TGEKPYKCKE CGKAFNRSSC LTQHQTTHTG EKLYKCKVCS KSYARSSNLI
MHQRVHTGEK PYKCKECGKV FSRSSCLTQH RKIHTGENLY KCKVCAKPFT CFSNLIVHER
IHTGEKPYKC KECGKAFPYS SHLIRHHRIH TGEKPYKCKA CSKSFSDSSG LTVHRRTHTG
EKPYTCKECG KAFSYSSDVI QHRRIHTGQR PYKCEECGKA FNYRSYLTTH QRSHTGERPY
KCEECGKAFN SRSYLTTHRR RHTGERPYKC DECGKAFSYR SYLTTHRRSH SGERPYKCEE
CGKAFNSRSY LIAHQRSHTR EKL*
mutated AA sequence MGLLTFRDVA VEFSLEEWEH LEPAQKNLYQ DVMLENYRNL VSLGLVVSKP DLITFLEQRK
EPWNVKSEET VAIQPDVFSH YNKDLLTEHC TEASFQKVIS RRHGSCDLEN LHLRKRWKRE
ECEGHNGCYD EKTFKYDQFD ESSVESLFHQ QILSSCAKSY NFDQYRKVFT HSSLLNQQEE
IDIWGKHHIY DKTSVLFRQV STLNSYRNVF IGEKNYHCNN SEKTLNQSSS PKNHQENYFL
EKQYKCKEFE EVFLQSMHGQ EKQEQSYKCN KCVEVCTQSL KHIQHQTIHI RENSYSYNKY
DKDLSQSSNL RKQIIHNEEK PYKCEKCGDS LNHSLHLTQH QIIPTEEKPY KWKECGKVFN
LNCSLYLTKQ QQIDTGENLY KCKACSKSFT RSSNLIVHQR IHTGEKPYKC KECGKAFRCS
SYLTKHKRIH TGEKPYKCKE CGKAFNRSSC LTQHQTTHTG EKLYKCKVCS KSYARSSNLI
MHQRVHTGEK PYKCKECGKV FSRSSCLTQH RKIHTGENLY KCKVCAKPFT CFSNLIVHER
IHTGEKPYKC KECGKAFPYS SHLIRHHRIH TGEKPYKCKA CSKSFSDSSG LTVHRRTHTG
EKPYTCKECG KAFSYSSDVI QHRRIHTGQR PYKCEECGKA FNYRSYLTTH QRSHTGERPY
KCEECGKAFN SRSYLTTHRR RHTGERPYKC DECGKAFSYR SYLTTHRRSH SGERPYKCEE
CGKAFNSRSY LIAHQRSHTR EKL*
speed 1.23 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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Problems