Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999998663715788 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900082)
  • known disease mutation: rs234 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43024239A>GN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000361740
Genbank transcript ID NM_001171660
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.481T>C
cDNA.481T>C
g.21336T>C
AA changes S161P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 161
frameshift no
known variant Reference ID: rs121965006
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs234 (pathogenic for Methemoglobinemia type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900082)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900082)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900082)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7451
1.7631
(flanking)3.5781
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 increased21327wt: 0.3044 / mu: 0.3192 (marginal change - not scored)wt: CTGGAGGGAAGATGT
mu: CTGGAGGGAAGATGC		 GGAG|ggaa
Donor gained213310.38mu: AGGGAAGATGCCTCA GGAA|gatg
Donor gained213350.53mu: AAGATGCCTCAGTAC GATG|cctc
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      161THPKFPAGGKMSQYLESMQIGDTI
mutated  not conserved    161THPKFPAGGKMPQYLESMQIGDT
Ptroglodytes  all identical  ENSPTRG00000014461  128SQYLESMQIGDT
Mmulatta  all identical  ENSMMUG00000010198  128SQYLESMQIGDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  105THPKFPAGGKMSQYLENMKIGDT
Ggallus  all identical  ENSGALG00000014122  128SQYLDNLKIGDT
Trubripes  all identical  ENSTRUG00000013823  126VHPKFPEGGKMSQYLESLKIG
Drerio  all identical  ENSDARG00000005891  125IHPKFPDGGKMSQYLESLRI
Dmelanogaster  all conserved  FBgn0036211  142SHPKFPAGGKMTQHLEQLELGDK
Celegans  all identical  T05H4.5  136TNEKFPEGGKMSQHLESLKIGDT
Xtropicalis  all identical  ENSXETG00000016513  130MSQYLDSLRIDET
protein features
start (aa)end (aa)featuredetails 
156159STRANDmight get lost (downstream of altered splice site)
168171STRANDmight get lost (downstream of altered splice site)
171206NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
173180STRANDmight get lost (downstream of altered splice site)
181183HELIXmight get lost (downstream of altered splice site)
184195HELIXmight get lost (downstream of altered splice site)
187188CONFLICTML -> IV (in Ref. 4; CAA09006/CAA09007).might get lost (downstream of altered splice site)
191192CONFLICTIR -> MS (in Ref. 4; CAA09006/CAA09007).might get lost (downstream of altered splice site)
192192CONFLICTR -> G (in Ref. 11; AAA52306).might get lost (downstream of altered splice site)
203212STRANDmight get lost (downstream of altered splice site)
213215HELIXmight get lost (downstream of altered splice site)
219228HELIXmight get lost (downstream of altered splice site)
230232TURNmight get lost (downstream of altered splice site)
233234CONFLICTFK -> CN (in Ref. 4; CAA09006/CAA09007).might get lost (downstream of altered splice site)
233241STRANDmight get lost (downstream of altered splice site)
247252STRANDmight get lost (downstream of altered splice site)
255261HELIXmight get lost (downstream of altered splice site)
265267HELIXmight get lost (downstream of altered splice site)
270275STRANDmight get lost (downstream of altered splice site)
277282HELIXmight get lost (downstream of altered splice site)
280280CONFLICTI -> N (in Ref. 3; AAL87744).might get lost (downstream of altered splice site)
285291HELIXmight get lost (downstream of altered splice site)
295297HELIXmight get lost (downstream of altered splice site)
298300STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1005 / 1005
position (AA) of stopcodon in wt / mu AA sequence 335 / 335
position of stopcodon in wt / mu cDNA 1005 / 1005
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 22
strand -1
last intron/exon boundary 833
theoretical NMD boundary in CDS 782
length of CDS 1005
coding sequence (CDS) position 481
cDNA position
(for ins/del: last normal base / first normal base)		 481
gDNA position
(for ins/del: last normal base / first normal base)		 21336
chromosomal position
(for ins/del: last normal base / first normal base)		 43024239
original gDNA sequence snippet TTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATG
altered gDNA sequence snippet TTCCCGCTGGAGGGAAGATGCCTCAGTACCTGGAGAGCATG
original cDNA sequence snippet TTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATG
altered cDNA sequence snippet TTCCCGCTGGAGGGAAGATGCCTCAGTACCTGGAGAGCATG
wildtype AA sequence MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFVD LVIKVYFKDT HPKFPAGGKM SQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLDRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*
mutated AA sequence MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFVD LVIKVYFKDT HPKFPAGGKM PQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLDRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*
speed 0.79 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