Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999980434763 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM960081)
  • known disease mutation: rs885 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:78260300T>CN/A show variant in all transcripts   IGV
HGNC symbol ARSB
Ensembl transcript ID ENST00000264914
Genbank transcript ID NM_000046
UniProt peptide P15848
alteration type single base exchange
alteration region CDS
DNA changes c.629A>G
cDNA.1166A>G
g.21611A>G
AA changes Y210C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 210
frameshift no
known variant Reference ID: rs118203943
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC04848

known disease mutation: rs885 (pathogenic for Mucopolysaccharidosis type 6|Metachromatic leukodystrophy|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960081)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960081)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960081)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1830.998
4.4171
(flanking)4.4171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased21616wt: 0.8597 / mu: 0.8619 (marginal change - not scored)wt: ATTCAACAAACATAT
mu: GTTCAACAAACATAT		 TCAA|caaa
distance from splice site 62
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      210GEEVATGYKNMYSTNIFTKRAIAL
mutated  not conserved    210GEEVATGYKNMCSTNIFTKRAIA
Ptroglodytes  all identical  ENSPTRG00000017019  212GEEVATGYKNMYSTNIFTKRAIA
Mmulatta  all identical  ENSMMUG00000006792  211GEEVATGYKNMYSTNIFTKRATA
Fcatus  no alignment  ENSFCAG00000011879  n/a
Mmusculus  all identical  ENSMUSG00000042082  211GEEPAKEYNNIYSTNIFTKRATT
Ggallus  all identical  ENSGALG00000004438  203GEEVATGFKNMYSTNLFTERAID
Trubripes  all identical  ENSTRUG00000003412  190AEAVARSYKGTYSTELFSQRAV
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000542  204GEVPATDYQMKYSTHLFTDRAVD
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1602 / 1602
position (AA) of stopcodon in wt / mu AA sequence 534 / 534
position of stopcodon in wt / mu cDNA 2139 / 2139
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 538 / 538
chromosome 5
strand -1
last intron/exon boundary 1874
theoretical NMD boundary in CDS 1286
length of CDS 1602
coding sequence (CDS) position 629
cDNA position
(for ins/del: last normal base / first normal base)		 1166
gDNA position
(for ins/del: last normal base / first normal base)		 21611
chromosomal position
(for ins/del: last normal base / first normal base)		 78260300
original gDNA sequence snippet AACAGGATATAAAAATATGTATTCAACAAACATATTCACCA
altered gDNA sequence snippet AACAGGATATAAAAATATGTGTTCAACAAACATATTCACCA
original cDNA sequence snippet AACAGGATATAAAAATATGTATTCAACAAACATATTCACCA
altered cDNA sequence snippet AACAGGATATAAAAATATGTGTTCAACAAACATATTCACCA
wildtype AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*
mutated AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMC STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*
speed 1.28 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