Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.958293016843364 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:29911970G>AN/A show variant in all transcripts   IGV
HGNC symbol HLA-A
Ensembl transcript ID ENST00000396634
Genbank transcript ID NM_002116
UniProt peptide P10314
alteration type single base exchange
alteration region CDS
DNA changes c.691G>A
cDNA.1032G>A
g.2934G>A
AA changes G231S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
frameshift no
known variant Reference ID: rs9260180
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC9562296324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7521
1.9631
(flanking)1.9161
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 72
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      231DHEATLRCWALGFYPAEITLTWQR
mutated  not conserved    231DHEATLRCWALSFYPAEITLT
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000029875  231DHEATLRCWALGFYPAEITLT
Fcatus  no homologue    
Mmusculus  no homologue    
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 
25308TOPO_DOMExtracellular (Potential).lost
207298REGIONAlpha-3.lost
209295DOMAINIg-like C1-type.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1098 / 1098
position (AA) of stopcodon in wt / mu AA sequence 366 / 366
position of stopcodon in wt / mu cDNA 1439 / 1439
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 342 / 342
chromosome 6
strand 1
last intron/exon boundary 1435
theoretical NMD boundary in CDS 1043
length of CDS 1098
coding sequence (CDS) position 691
cDNA position
(for ins/del: last normal base / first normal base)		 1032
gDNA position
(for ins/del: last normal base / first normal base)		 2934
chromosomal position
(for ins/del: last normal base / first normal base)		 29911970
original gDNA sequence snippet CCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATC
altered gDNA sequence snippet CCCTGAGGTGCTGGGCCCTGAGCTTCTACCCTGCGGAGATC
original cDNA sequence snippet CCCTGAGGTGCTGGGCCCTGGGCTTCTACCCTGCGGAGATC
altered cDNA sequence snippet CCCTGAGGTGCTGGGCCCTGAGCTTCTACCCTGCGGAGATC
wildtype AA sequence MAVMAPRTLL LLLSGALALT QTWAGSHSMR YFFTSVSRPG RGEPRFIAVG YVDDTQFVRF
DSDAASQRME PRAPWIEQEG PEYWDQETRN VKAQSQTDRV DLGTLRGYYN QSEAGSHTIQ
IMYGCDVGSD GRFLRGYRQD AYDGKDYIAL NEDLRSWTAA DMAAQITKRK WEAAHEAEQL
RAYLDGTCVE WLRRYLENGK ETLQRTDPPK THMTHHPISD HEATLRCWAL GFYPAEITLT
WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PKPLTLRWEL
SSQPTIPIVG IIAGLVLLGA VITGAVVAAV MWRRKSSDRK GGSYTQAASS DSAQGSDVSL
TACKV*
mutated AA sequence MAVMAPRTLL LLLSGALALT QTWAGSHSMR YFFTSVSRPG RGEPRFIAVG YVDDTQFVRF
DSDAASQRME PRAPWIEQEG PEYWDQETRN VKAQSQTDRV DLGTLRGYYN QSEAGSHTIQ
IMYGCDVGSD GRFLRGYRQD AYDGKDYIAL NEDLRSWTAA DMAAQITKRK WEAAHEAEQL
RAYLDGTCVE WLRRYLENGK ETLQRTDPPK THMTHHPISD HEATLRCWAL SFYPAEITLT
WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PKPLTLRWEL
SSQPTIPIVG IIAGLVLLGA VITGAVVAAV MWRRKSSDRK GGSYTQAASS DSAQGSDVSL
TACKV*
speed 0.90 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