Prediction |
disease causing |
Model: simple_aae, prob: 0.999999999999981 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr22:43024175A>GN/A
show variant in all transcripts IGV
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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.446T>C cDNA.699T>C g.21400T>C |
AA changes | L149P Score: 98 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 149 |
frameshift | no |
known variant | Reference ID: rs121965008
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | - | - | - |
ExAC | 0 | 1 | 1 |
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)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.52 | 1 | | 4.362 | 1 | (flanking) | 2.721 | 1 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Acc marginally increased | 21401 | wt: 0.5079 / mu: 0.5549 (marginal change - not scored) | wt: CGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGTGA mu: CGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCAAAGGTGA | gctg|GTCT | Acc increased | 21394 | wt: 0.34 / mu: 0.41 | wt: TGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCA mu: TGAGTTCCGGGGCCCCAGTGGGCTGCCGGTCTACCAGGGCA | gtgg|GCTG |
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distance from splice site | 18 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 149 | D | T | I | E | F | R | G | P | S | G | L | L | V | Y | Q | G | K | G | K | F | A | I | R | P |
mutated | not conserved | | 149 | D | T | I | E | F | R | G | P | S | G | L | P | V | Y | Q | G | K | G | K | F | A | I | R |
Ptroglodytes | all identical | ENSPTRG00000014461 | 149 | D | T | I | E | F | R | G | P | N | G | L | L | V | Y | Q | G | K | G | K | F | A | I | R |
Mmulatta | all identical | ENSMMUG00000010198 | 149 | D | T | I | E | F | R | G | P | N | G | L | L | V | Y | Q | G | K | G | K | F | A | I | R |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000018042 | 126 | | | | | | | G | P | N | G | L | L | V | Y | Q | G | K | G | K | F | A | I | R |
Ggallus | all identical | ENSGALG00000014122 | 149 | D | T | I | D | F | R | G | P | S | G | L | L | V | Y | K | G | K | G | E | F | A | I | R |
Trubripes | all identical | ENSTRUG00000013823 | 147 | D | F | I | D | F | R | G | P | S | G | L | L | V | Y | K | G | K | G | V | F | A | I | Q |
Drerio | all identical | ENSDARG00000005891 | 146 | D | T | I | D | F | R | G | P | S | G | L | L | V | Y | K | G | K | G | S | F | A | I | R |
Dmelanogaster | all identical | FBgn0036211 | 163 | D | K | I | S | F | R | G | P | S | G | R | L | Q | Y | L | G | N | | | | | | |
Celegans | all conserved | T05H4.5 | 157 | D | T | I | N | F | R | G | P | Q | G | N | I | V | Y | K | G | H | | | | | | |
Xtropicalis | all identical | ENSXETG00000016513 | 151 | E | T | I | D | F | R | G | P | S | G | L | L | T | Y | S | G | R | G | T | F | Q | I | R |
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protein features | start (aa) | end (aa) | feature | details | | 40 | 152 | DOMAIN | FAD-binding FR-type. | lost | 132 | 147 | NP_BIND | FAD (By similarity). | might get lost (downstream of altered splice site) | 148 | 153 | STRAND | | lost | 156 | 159 | STRAND | | might get lost (downstream of altered splice site) | 168 | 171 | STRAND | | might get lost (downstream of altered splice site) | 171 | 206 | NP_BIND | FAD (By similarity). | might get lost (downstream of altered splice site) | 173 | 180 | STRAND | | might get lost (downstream of altered splice site) | 181 | 183 | HELIX | | might get lost (downstream of altered splice site) | 184 | 195 | HELIX | | might get lost (downstream of altered splice site) | 187 | 188 | CONFLICT | ML -> IV (in Ref. 4; CAA09006/CAA09007). | might get lost (downstream of altered splice site) | 191 | 192 | CONFLICT | IR -> MS (in Ref. 4; CAA09006/CAA09007). | might get lost (downstream of altered splice site) | 192 | 192 | CONFLICT | R -> G (in Ref. 11; AAA52306). | might get lost (downstream of altered splice site) | 203 | 212 | STRAND | | might get lost (downstream of altered splice site) | 213 | 215 | HELIX | | might get lost (downstream of altered splice site) | 219 | 228 | HELIX | | might get lost (downstream of altered splice site) | 230 | 232 | TURN | | might get lost (downstream of altered splice site) | 233 | 234 | CONFLICT | FK -> CN (in Ref. 4; CAA09006/CAA09007). | might get lost (downstream of altered splice site) | 233 | 241 | STRAND | | might get lost (downstream of altered splice site) | 247 | 252 | STRAND | | might get lost (downstream of altered splice site) | 255 | 261 | HELIX | | might get lost (downstream of altered splice site) | 265 | 267 | HELIX | | might get lost (downstream of altered splice site) | 270 | 275 | STRAND | | might get lost (downstream of altered splice site) | 277 | 282 | HELIX | | might get lost (downstream of altered splice site) | 280 | 280 | CONFLICT | I -> N (in Ref. 3; AAL87744). | might get lost (downstream of altered splice site) | 285 | 291 | HELIX | | might get lost (downstream of altered splice site) | 295 | 297 | HELIX | | might get lost (downstream of altered splice site) | 298 | 300 | STRAND | | might get lost (downstream of altered splice site) |
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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 | 446 |
cDNA position (for ins/del: last normal base / first normal base) | 699 |
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 | 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 EFRGPSGLPV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV F* |
speed | 1.28 s |
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