Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999970296236 (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) chr11:5444061G>AN/A show variant in all transcripts   IGV
HGNC symbol OR51Q1
Ensembl transcript ID ENST00000300778
Genbank transcript ID NM_001004757
UniProt peptide Q8NH59
alteration type single base exchange
alteration region CDS
DNA changes c.631G>A
cDNA.721G>A
g.721G>A
AA changes V211M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 211
frameshift no
known variant Reference ID: rs2736586
databasehomozygous (A/A)heterozygousallele carriers
1000G58710981685
ExAC11783920120984
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3060.024
-0.2590.023
(flanking)4.6260.928
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 increased716wt: 0.3085 / mu: 0.3282 (marginal change - not scored)wt: TGCTCTTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCA
mu: TGCTCTTGCCTTGCTCATTATTATCATGGATCCTCTGCTCA		 ttat|TATC
Acc marginally increased721wt: 0.2582 / mu: 0.2926 (marginal change - not scored)wt: TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG
mu: TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG		 atcg|TGGA
Acc increased724wt: 0.63 / mu: 0.82wt: CCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTGATC
mu: CCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTGATC		 gtgg|ATCC
Acc marginally increased718wt: 0.7006 / mu: 0.7204 (marginal change - not scored)wt: CTCTTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATT
mu: CTCTTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATT		 atta|TCGT
distance from splice site 376
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      211YGFALALLIIIVDPLLIVISYTLI
mutated  all conserved    211YGFALALLIIIMDPLLIVISYTL
Ptroglodytes  all conserved  ENSPTRG00000003248  211YGFALALLIIIMDPLLIVISYTL
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000094063  217YGFALVLLIIVLDPLLIVLSYAL
Ggallus  all conserved  ENSGALG00000017348  209YGLIL-VLVAILDFVLIALSYIM
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000016607  210YGLVIILSTVTLDAILIFISYVL
protein features
start (aa)end (aa)featuredetails 
199219TRANSMEMHelical; Name=5; (Potential).lost
220239TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
240260TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
261275TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
276296TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
297317TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 954 / 954
position (AA) of stopcodon in wt / mu AA sequence 318 / 318
position of stopcodon in wt / mu cDNA 1044 / 1044
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 91 / 91
chromosome 11
strand 1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 954
coding sequence (CDS) position 631
cDNA position
(for ins/del: last normal base / first normal base)		 721
gDNA position
(for ins/del: last normal base / first normal base)		 721
chromosomal position
(for ins/del: last normal base / first normal base)		 5444061
original gDNA sequence snippet TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG
altered gDNA sequence snippet TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG
original cDNA sequence snippet TTGCCTTGCTCATTATTATCGTGGATCCTCTGCTCATTGTG
altered cDNA sequence snippet TTGCCTTGCTCATTATTATCATGGATCCTCTGCTCATTGTG
wildtype AA sequence MSQVTNTTQE GIYFILTDIP GFEASHIWIS IPVCCLYTIS IMGNTTILTV IRTEPSVHQR
MYLFLSMLAL TDLGLTLTTL PTVMQLLWFN VRRISSEACF AQFFFLHGFS FMESSVLLAM
SVDCYVAICC PLHYASILTN EVIGRTGLAI ICCCVLAVLP SLFLLKRLPF CHSHLLSRSY
CLHQDMIRLV CADIRLNSWY GFALALLIII VDPLLIVISY TLILKNILGT ATWAERLRAL
NNCLSHILAV LVLYIPMVGV SMTHRFAKHA SPLVHVIMAN IYLLAPPVMN PIIYSVKNKQ
IQWGMLNFLS LKNMHSR*
mutated AA sequence MSQVTNTTQE GIYFILTDIP GFEASHIWIS IPVCCLYTIS IMGNTTILTV IRTEPSVHQR
MYLFLSMLAL TDLGLTLTTL PTVMQLLWFN VRRISSEACF AQFFFLHGFS FMESSVLLAM
SVDCYVAICC PLHYASILTN EVIGRTGLAI ICCCVLAVLP SLFLLKRLPF CHSHLLSRSY
CLHQDMIRLV CADIRLNSWY GFALALLIII MDPLLIVISY TLILKNILGT ATWAERLRAL
NNCLSHILAV LVLYIPMVGV SMTHRFAKHA SPLVHVIMAN IYLLAPPVMN PIIYSVKNKQ
IQWGMLNFLS LKNMHSR*
speed 1.07 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