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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:132288362T>CN/A show variant in all transcripts   IGV
HGNC symbol CCDC74A
Ensembl transcript ID ENST00000467992
Genbank transcript ID N/A
UniProt peptide Q96LY2
alteration type single base exchange
alteration region CDS
DNA changes c.812T>C
cDNA.1126T>C
g.3115T>C
AA changes M271T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs201632382
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC48171723122048
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.410.004
-0.5290.001
(flanking)-1.8630
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 increased3115wt: 0.2715 / mu: 0.2836 (marginal change - not scored)wt: TCCTGCAGACAGCCTCTCCATGTCAAGCTTCCAGTCTGTCA
mu: TCCTGCAGACAGCCTCTCCACGTCAAGCTTCCAGTCTGTCA		 ccat|GTCA
Donor increased3110wt: 0.58 / mu: 0.76wt: AGCCTCTCCATGTCA
mu: AGCCTCTCCACGTCA		 CCTC|tcca
Donor marginally increased3115wt: 0.9978 / mu: 0.9983 (marginal change - not scored)wt: CTCCATGTCAAGCTT
mu: CTCCACGTCAAGCTT		 CCAT|gtca
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271DTVRSPADSLSMSSFQSVKSISNS
mutated  not conserved    271DTVRSPADSLSTSSFQSVKSISN
Ptroglodytes  not conserved  ENSPTRG00000012471  169TVRSPADSLSTSSFQSVKSISN
Mmulatta  not conserved  ENSMMUG00000003066  266D-LRSPADSLSTSSFPSVKSISN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041617  106SISTWSLHSGKSASN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000093026  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 993 / 993
position (AA) of stopcodon in wt / mu AA sequence 331 / 331
position of stopcodon in wt / mu cDNA 1307 / 1307
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 315 / 315
chromosome 2
strand 1
last intron/exon boundary 2414
theoretical NMD boundary in CDS 2049
length of CDS 993
coding sequence (CDS) position 812
cDNA position
(for ins/del: last normal base / first normal base)		 1126
gDNA position
(for ins/del: last normal base / first normal base)		 3115
chromosomal position
(for ins/del: last normal base / first normal base)		 132288362
original gDNA sequence snippet TCCTGCAGACAGCCTCTCCATGTCAAGCTTCCAGTCTGTCA
altered gDNA sequence snippet TCCTGCAGACAGCCTCTCCACGTCAAGCTTCCAGTCTGTCA
original cDNA sequence snippet TCCTGCAGACAGCCTCTCCATGTCAAGCTTCCAGTCTGTCA
altered cDNA sequence snippet TCCTGCAGACAGCCTCTCCACGTCAAGCTTCCAGTCTGTCA
wildtype AA sequence MGRNPWDSPC PARSLPQIAA VARPRISSPM ALSPHMLGAQ GLWTHSIQGS LPAIWAATMG
TKGGSRVLFP CHLSKALPHP DSGPHPAQDP GLWSQAHFPL SLGLGLTSGG HLTGGWSQPG
NIAAGAVPRA LPSQGDMEKG VEGGPFPSRC GNSSELFWAK CGPSRQPQPC SAGDADRTRE
EAMLSLGTCC SMCPKPSCFP DGPSGNHLSR ASAPLGARWV CINGVWVEPG GPSPARLKEG
SSRTHRPGGK RGRLAGGSAD TVRSPADSLS MSSFQSVKSI SNSGKARPQP GSFNKQDSKA
DVSQKADLEE EPLLHNSKLD KVPGVQGQAR *
mutated AA sequence MGRNPWDSPC PARSLPQIAA VARPRISSPM ALSPHMLGAQ GLWTHSIQGS LPAIWAATMG
TKGGSRVLFP CHLSKALPHP DSGPHPAQDP GLWSQAHFPL SLGLGLTSGG HLTGGWSQPG
NIAAGAVPRA LPSQGDMEKG VEGGPFPSRC GNSSELFWAK CGPSRQPQPC SAGDADRTRE
EAMLSLGTCC SMCPKPSCFP DGPSGNHLSR ASAPLGARWV CINGVWVEPG GPSPARLKEG
SSRTHRPGGK RGRLAGGSAD TVRSPADSLS TSSFQSVKSI SNSGKARPQP GSFNKQDSKA
DVSQKADLEE EPLLHNSKLD KVPGVQGQAR *
speed 0.33 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