Yum, tasty mutations...

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 ENST00000295171
Genbank transcript ID NM_138770
UniProt peptide Q96LY2
alteration type single base exchange
alteration region CDS
DNA changes c.506T>C
cDNA.644T>C
g.3115T>C
AA changes M169T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 169
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      169DTVRSPADSLSMSSFQSVKSISNS
mutated  not conserved    169DTVRSPADSLSTSSFQSVKSISN
Ptroglodytes  not conserved  ENSPTRG00000012471  169DTVRSPADSLSTSSFQSVKSISN
Mmulatta  not conserved  ENSMMUG00000003066  266-LRSPADSLSTSSFPSVKSISN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041617  144HSGKSASNS--------TMS
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 1137 / 1137
position (AA) of stopcodon in wt / mu AA sequence 379 / 379
position of stopcodon in wt / mu cDNA 1275 / 1275
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 139 / 139
chromosome 2
strand 1
last intron/exon boundary 1146
theoretical NMD boundary in CDS 957
length of CDS 1137
coding sequence (CDS) position 506
cDNA position
(for ins/del: last normal base / first normal base)		 644
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 MSGAGVAAGT RPPSSPTPGS RRRRQRPSVG VQSLRPQSPQ LRQSDPQKRN LDLEKSLQFL
QQQHSEMLAK LHEEIEHLKR ENKDLHYKLI MNQTSQKKDG PSGNHLSRAS APLGARWVCI
NGVWVEPGGP SPARLKEGSS RTHRPGGKRG RLAGGSADTV RSPADSLSMS SFQSVKSISN
SGKARPQPGS FNKQDSKADV SQKADLEEEP LLHNSKLDKV PGVQGQARKE KAEASNAGAA
CMGNSQHQGR QMGAGAHPPM ILPLPLRKPT TLRQCEVLIR ELWNTNLLQT QELRHLKSLL
EGSQRPQAAP EEASFPRDQE ATHFPKVSTK SLSKKCLSPP VAERAILPAL KQTPKNNFAE
RQKRLQAMQK RRLHRSVL*
mutated AA sequence MSGAGVAAGT RPPSSPTPGS RRRRQRPSVG VQSLRPQSPQ LRQSDPQKRN LDLEKSLQFL
QQQHSEMLAK LHEEIEHLKR ENKDLHYKLI MNQTSQKKDG PSGNHLSRAS APLGARWVCI
NGVWVEPGGP SPARLKEGSS RTHRPGGKRG RLAGGSADTV RSPADSLSTS SFQSVKSISN
SGKARPQPGS FNKQDSKADV SQKADLEEEP LLHNSKLDKV PGVQGQARKE KAEASNAGAA
CMGNSQHQGR QMGAGAHPPM ILPLPLRKPT TLRQCEVLIR ELWNTNLLQT QELRHLKSLL
EGSQRPQAAP EEASFPRDQE ATHFPKVSTK SLSKKCLSPP VAERAILPAL KQTPKNNFAE
RQKRLQAMQK RRLHRSVL*
speed 0.32 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