Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999986 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910109)
  • known disease mutation: rs236 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43024175A>GN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000407332
Genbank transcript ID N/A
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.377T>C
cDNA.469T>C
g.21400T>C
AA changes L126P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs121965008
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs236 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM910109)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910109)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910109)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.521
4.3621
(flanking)2.7211
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 increased21401wt: 0.5079 / mu: 0.5549 (marginal change - not scored)wt: CGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGTGA
mu: CGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCAAAGGTGA		 gctg|GTCT
Acc increased21394wt: 0.34 / mu: 0.41wt: TGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCA
mu: TGAGTTCCGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCA		 gtgg|GCTG
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126DTIEFRGPSGLLVYQGKGKFAIRP
mutated  not conserved    126GPSGLPVYQGKGKFAIR
Ptroglodytes  all identical  ENSPTRG00000014461  149GPNGLLVYQGKGKFAIR
Mmulatta  all identical  ENSMMUG00000010198  149GPNGLLVYQGKGKFAIR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  126GPNGLLVYQGKGKFAIR
Ggallus  all identical  ENSGALG00000014122  149PSGLLVYKGKGEFAIR
Trubripes  all identical  ENSTRUG00000013823  147GLLVYKGKGVFAIQ
Drerio  all identical  ENSDARG00000005891  146LVYKGKGSFAIR
Dmelanogaster  all identical  FBgn0036211  163DKISFRGPSGRLQYLGN
Celegans  all conserved  T05H4.5  157DTINFRGPQGNIVYKGH
Xtropicalis  all identical  ENSXETG00000016513  151PSGLLTYSGRGTFQIR
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
126133HELIXlost
130130MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
132147NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
139146STRANDmight get lost (downstream of altered splice site)
148153STRANDmight get lost (downstream of altered splice site)
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 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 929 / 929
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 93 / 93
chromosome 22
strand -1
last intron/exon boundary 757
theoretical NMD boundary in CDS 614
length of CDS 837
coding sequence (CDS) position 377
cDNA position
(for ins/del: last normal base / first normal base)		 469
gDNA position
(for ins/del: last normal base / first normal base)		 21400
chromosomal position
(for ins/del: last normal base / first normal base)		 43024175
original gDNA sequence snippet CCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGTG
altered gDNA sequence snippet CCGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCAAAGGTG
original cDNA sequence snippet CCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGA
altered cDNA sequence snippet CCGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCAAAGGGA
wildtype AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
mutated AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLPVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
speed 1.35 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