Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998953 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:123200768T>GN/A show variant in all transcripts   IGV
HGNC symbol HCAR3
Ensembl transcript ID ENST00000528880
Genbank transcript ID NM_006018
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.517A>C
cDNA.672A>C
g.672A>C
AA changes T173P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 173
frameshift no
known variant Reference ID: rs1798192
databasehomozygous (G/G)heterozygousallele carriers
1000G55512141769
ExAC1614547716622
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2660
-0.1130
(flanking)0.2560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 672
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      173LLKKKLLIQNGTANVCISFSICHT
mutated  not conserved    173LLKKKLLIQNGPANVCISF
Ptroglodytes  all identical  ENSPTRG00000032447  173LLKKKLLIQNGTANVCISF
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000016311  173LLHKKMLIRNRDANLCSSF
Mmusculus  not conserved  ENSMUSG00000045502  170LLYTNMMTKNGEAYLCSSFSICY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1164 / 1164
position (AA) of stopcodon in wt / mu AA sequence 388 / 388
position of stopcodon in wt / mu cDNA 1319 / 1319
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 156 / 156
chromosome 12
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 1164
coding sequence (CDS) position 517
cDNA position
(for ins/del: last normal base / first normal base)		 672
gDNA position
(for ins/del: last normal base / first normal base)		 672
chromosomal position
(for ins/del: last normal base / first normal base)		 123200768
original gDNA sequence snippet AGTTGCTGATCCAGAATGGCACTGCAAATGTGTGCATCAGC
altered gDNA sequence snippet AGTTGCTGATCCAGAATGGCCCTGCAAATGTGTGCATCAGC
original cDNA sequence snippet AGTTGCTGATCCAGAATGGCACTGCAAATGTGTGCATCAGC
altered cDNA sequence snippet AGTTGCTGATCCAGAATGGCCCTGCAAATGTGTGCATCAGC
wildtype AA sequence MNRHHLQDHF LEIDKKNCCV FRDDFIAKVL PPVLGLEFIF GLLGNGLALW IFCFHLKSWK
SSRIFLFNLA VADFLLIICL PFVMDYYVRR SDWKFGDIPC RLVLFMFAMN RQGSIIFLTV
VAVDRYFRVV HPHHALNKIS NWTAAIISCL LWGITVGLTV HLLKKKLLIQ NGTANVCISF
SICHTFRWHE AMFLLEFFLP LGIILFCSAR IIWSLRQRQM DRHAKIKRAI TFIMVVAIVF
VICFLPSVVV RIHIFWLLHT SGTQNCEVYR SVDLAFFITL SFTYMNSMLD PVVYYFSSPS
FPNFFSTLIN RCLQRKITGE PDNNRSTSVE LTGDPNKTRG APEALIANSG EPWSPSYLGP
TSNNHSKKGH CHQEPASLEK QLGCCIE*
mutated AA sequence MNRHHLQDHF LEIDKKNCCV FRDDFIAKVL PPVLGLEFIF GLLGNGLALW IFCFHLKSWK
SSRIFLFNLA VADFLLIICL PFVMDYYVRR SDWKFGDIPC RLVLFMFAMN RQGSIIFLTV
VAVDRYFRVV HPHHALNKIS NWTAAIISCL LWGITVGLTV HLLKKKLLIQ NGPANVCISF
SICHTFRWHE AMFLLEFFLP LGIILFCSAR IIWSLRQRQM DRHAKIKRAI TFIMVVAIVF
VICFLPSVVV RIHIFWLLHT SGTQNCEVYR SVDLAFFITL SFTYMNSMLD PVVYYFSSPS
FPNFFSTLIN RCLQRKITGE PDNNRSTSVE LTGDPNKTRG APEALIANSG EPWSPSYLGP
TSNNHSKKGH CHQEPASLEK QLGCCIE*
speed 0.77 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