Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999978 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980556)
  • known disease mutation: rs246 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43027392A>GN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000352397
Genbank transcript ID NM_000398
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.218T>C
cDNA.471T>C
g.18183T>C
AA changes L73P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 73
frameshift no
known variant Reference ID: rs121965013
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs246 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980556)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980556)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980556)
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)-0.4540.968
3.9311
(flanking)3.2181
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally decreased18191wt: 0.8997 / mu: 0.8197 (marginal change - not scored)wt: ACATCCTGGGCCTCCCTGTCGGTGAGTCACGCCCCTGCTGG
mu: ACATCCTGGGCCCCCCTGTCGGTGAGTCACGCCCCTGCTGG		 gtcg|GTGA
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73FALPSPQHILGLPVGQHIYLSARI
mutated  not conserved    73FALPSPQHILGPPVGQHIYLSAR
Ptroglodytes  all identical  ENSPTRG00000014461  73FALPSPQHILGLPVGQHIYLSAR
Mmulatta  all identical  ENSMMUG00000010198  73FALPSPEHILGLPVGQHIYLSAQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  50FALPSPQHILGLPIGQHIYLST
Ggallus  all identical  ENSGALG00000014122  73FALPSVDHVLGLPIGQHIYLSAR
Trubripes  all identical  ENSTRUG00000013823  70FALPSPEHVLGLPIGQ
Drerio  all identical  ENSDARG00000005891  70LKSPDHVLGLPIGQHIYLSAK
Dmelanogaster  all identical  FBgn0036211  87FGLPSKQHVLGLPVGQHIHLIAT
Celegans  all identical  T05H4.5  81FGLPSKDHILGLPIGQHVYLTAN
Xtropicalis  all identical  ENSXETG00000016513  75FALPSPEHILGLPIGQHIYLSAR
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 906 / 906
position (AA) of stopcodon in wt / mu AA sequence 302 / 302
position of stopcodon in wt / mu cDNA 1159 / 1159
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 254 / 254
chromosome 22
strand -1
last intron/exon boundary 987
theoretical NMD boundary in CDS 683
length of CDS 906
coding sequence (CDS) position 218
cDNA position
(for ins/del: last normal base / first normal base)		 471
gDNA position
(for ins/del: last normal base / first normal base)		 18183
chromosomal position
(for ins/del: last normal base / first normal base)		 43027392
original gDNA sequence snippet ACCCCAGCACATCCTGGGCCTCCCTGTCGGTGAGTCACGCC
altered gDNA sequence snippet ACCCCAGCACATCCTGGGCCCCCCTGTCGGTGAGTCACGCC
original cDNA sequence snippet ACCCCAGCACATCCTGGGCCTCCCTGTCGGCCAGCACATCT
altered cDNA sequence snippet ACCCCAGCACATCCTGGGCCCCCCTGTCGGCCAGCACATCT
wildtype AA sequence MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
mutated AA sequence MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGPPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
speed 0.95 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