Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999812029514 (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) chr15:34673722C>TN/A show variant in all transcripts   IGV
HGNC symbol GOLGA8A
Ensembl transcript ID ENST00000432566
Genbank transcript ID N/A
UniProt peptide A7E2F4
alteration type single base exchange
alteration region CDS
DNA changes c.1792G>A
cDNA.1792G>A
g.206983G>A
AA changes V598I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 598
frameshift no
known variant Reference ID: rs347877
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC92171433323550
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6911
0.5120.998
(flanking)-0.3490.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased206985wt: 0.40 / mu: 0.87wt: CCAGTCGTGCAGCTC
mu: CCAATCGTGCAGCTC		 AGTC|gtgc
Donor marginally increased206978wt: 0.8832 / mu: 0.9436 (marginal change - not scored)wt: TGCACAGCCAGTCGT
mu: TGCACAGCCAATCGT		 CACA|gcca
distance from splice site 93
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      598GSSQDNPTAQPVVQLLGEMQDHQE
mutated  all conserved    598GSSQDNPTAQPIVQ
Ptroglodytes  all conserved  ENSPTRG00000030342  567GSSQDKPTAQPIVQLLGEMQNHQ
Mmulatta  all conserved  ENSMMUG00000014208  220GSPHDNATAQPIAQEHQEHQEHQEHQ
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  all conserved  ENSGALG00000004881  963-PSQEDPTAKQIMQLLREIQNPQ
Trubripes  all conserved  ENSTRUG00000018651  981PKEGGTAQQIMQLLHEIQNPQGTAR
Drerio  all conserved  ENSDARG00000063197  1018TARQIMQLLQEIQNPQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012915  979PESED-PTTKQIMQLLHEIQNPQ
protein features
start (aa)end (aa)featuredetails 
519631REGIONGolgi-targeting domain (By similarity).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1902 / 1902
position (AA) of stopcodon in wt / mu AA sequence 634 / 634
position of stopcodon in wt / mu cDNA 1902 / 1902
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 1 / 1
chromosome 15
strand -1
last intron/exon boundary 1700
theoretical NMD boundary in CDS 1649
length of CDS 1902
coding sequence (CDS) position 1792
cDNA position
(for ins/del: last normal base / first normal base)		 1792
gDNA position
(for ins/del: last normal base / first normal base)		 206983
chromosomal position
(for ins/del: last normal base / first normal base)		 34673722
original gDNA sequence snippet ACAACCCTACTGCACAGCCAGTCGTGCAGCTCCTTGGTGAG
altered gDNA sequence snippet ACAACCCTACTGCACAGCCAATCGTGCAGCTCCTTGGTGAG
original cDNA sequence snippet ACAACCCTACTGCACAGCCAGTCGTGCAGCTCCTTGGTGAG
altered cDNA sequence snippet ACAACCCTACTGCACAGCCAATCGTGCAGCTCCTTGGTGAG
wildtype AA sequence MLPVDGEERK SEGSDTEGDR TSPCAGPTSS ATLKDLEVGG SGRRCSDPAG QPSNLLPQRG
LGAPLPAETA HTQPSPNDRS LYLSPKSSSA SSSLHARQSP CQEQAAVLNS RSIKISRLND
TIKSLKQQKK QVEHQLEEEK KANNEKQKAE RELEGQIQRL NTEKKKLNTD LYHMKHSLRY
FEEESKDLAG RLQRSSQRIG ELEWSLCAVA ATQKKKPDGF SSRSKALLKR QLEQSIREQI
LLKGHVTQLK ESLKEVQLER DQYAEQIKGE RAQWQQRMRK MSQEVCTLKE EKKHDTHRVE
ELERSLSRLK NQMAEPLPPD APAVSSEVEL QDLRKELERV AGELQAQVEN NQCISLLNRG
QKERLREQEE RLQEQQERLR EREKRLQQLA EPQSDLEELK HENKSALQLE QQVKELQEKL
GQVMETLTSA EKEPEAAVPA SGTGGESSGL MDLLEEKADL REHVEKLELG FIQYRRERCH
QKVHRLLTEP GDSAKDASPG GGHHQAGPGQ GGEEGEAAGA AGDGVAACGS YSEGHGKFLA
AARNPAAEPS PGAPAPQELG AADKHGDLCE ASLTNSVEPA QGEAREGSSQ DNPTAQPVVQ
LLGEMQDHQE HPGLGSNCCV PCFCWAWLPR RRR*
mutated AA sequence MLPVDGEERK SEGSDTEGDR TSPCAGPTSS ATLKDLEVGG SGRRCSDPAG QPSNLLPQRG
LGAPLPAETA HTQPSPNDRS LYLSPKSSSA SSSLHARQSP CQEQAAVLNS RSIKISRLND
TIKSLKQQKK QVEHQLEEEK KANNEKQKAE RELEGQIQRL NTEKKKLNTD LYHMKHSLRY
FEEESKDLAG RLQRSSQRIG ELEWSLCAVA ATQKKKPDGF SSRSKALLKR QLEQSIREQI
LLKGHVTQLK ESLKEVQLER DQYAEQIKGE RAQWQQRMRK MSQEVCTLKE EKKHDTHRVE
ELERSLSRLK NQMAEPLPPD APAVSSEVEL QDLRKELERV AGELQAQVEN NQCISLLNRG
QKERLREQEE RLQEQQERLR EREKRLQQLA EPQSDLEELK HENKSALQLE QQVKELQEKL
GQVMETLTSA EKEPEAAVPA SGTGGESSGL MDLLEEKADL REHVEKLELG FIQYRRERCH
QKVHRLLTEP GDSAKDASPG GGHHQAGPGQ GGEEGEAAGA AGDGVAACGS YSEGHGKFLA
AARNPAAEPS PGAPAPQELG AADKHGDLCE ASLTNSVEPA QGEAREGSSQ DNPTAQPIVQ
LLGEMQDHQE HPGLGSNCCV PCFCWAWLPR RRR*
speed 0.99 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