Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/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.316G>A
cDNA.569G>A
g.18670G>A
AA changes V106M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 106
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
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 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      106TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    106TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
104111STRANDlost
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 316
cDNA position
(for ins/del: last normal base / first normal base)		 569
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
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 LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFMDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
speed 1.04 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