Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999976877 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM051906)
  • known disease mutation: rs252 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43019809T>CN/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.719A>G
cDNA.972A>G
g.25766A>G
AA changes D240G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 240
frameshift no
known variant Reference ID: rs121965018
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs252 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051906)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7071
4.4431
(flanking)5.3861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased25765wt: 0.60 / mu: 0.97wt: CGCTGGACAGAGCCC
mu: CGCTGGGCAGAGCCC		 CTGG|acag
Donor gained257600.55mu: GTACACGCTGGGCAG ACAC|gctg
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      240HSARFKLWYTLDRAPEAWDYGQGF
mutated  not conserved    240HSARFKLWYTLGRAPEAWDYGQG
Ptroglodytes  all identical  ENSPTRG00000014461  240HSARFKLWYTLDRAPEAWDYSQG
Mmulatta  all identical  ENSMMUG00000010198  240HSARFKLWYTLDRAPEAWDYSQG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  217HSARFKLWYTVDKAPDG-EHGKP
Ggallus  all identical  ENSGALG00000014122  240HPNRFKCWYTLDKAPENWDYSQG
Trubripes  all identical  ENSTRUG00000013823  238HPDRFKLWFTLDRAPEGWEYSQG
Drerio  all identical  ENSDARG00000005891  237HPTRFKLWYTVDRAP
Dmelanogaster  all identical  FBgn0036211  255HPDQFKIWYTVDKANEGWQYSVG
Celegans  all identical  T05H4.5  248HPTRFRVWYTVDRPPVMWSYSSG
Xtropicalis  all identical  ENSXETG00000016513  242HPSRFKLWYTLDRAPEDWDYSQG
protein features
start (aa)end (aa)featuredetails 
233241STRANDlost
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 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 719
cDNA position
(for ins/del: last normal base / first normal base)		 972
gDNA position
(for ins/del: last normal base / first normal base)		 25766
chromosomal position
(for ins/del: last normal base / first normal base)		 43019809
original gDNA sequence snippet CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGGTGAGT
altered gDNA sequence snippet CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGGTGAGT
original cDNA sequence snippet CAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGG
altered cDNA sequence snippet CAAGCTCTGGTACACGCTGGGCAGAGCCCCTGAAGCCTGGG
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 DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLG
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
speed 1.23 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