Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999162 (classification due to TGP/ExAC,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- homozygous in TGP or ExAC
- known disease mutation at this position (HGMD CM0910116)
- protein features (might be) affected
- splice site changes
|
hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr6:31379109G>AN/A
show variant in all transcripts IGV
|
HGNC symbol | MICA |
Ensembl transcript ID | ENST00000376222 |
Genbank transcript ID | N/A |
UniProt peptide | Q29983 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.172G>A cDNA.1324G>A g.11549G>A |
AA changes | E58K Score: 56 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 58 |
frameshift | no |
known variant | Reference ID: rs1051794
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 347 | 1132 | 1479 |
ExAC | 3917 | 14776 | 18693 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910116)
|
regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site Gene Associated, Regulatory Feature, Gene associated regulatory feature H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.142 | 0 | | -0.314 | 0 | (flanking) | -0.386 | 0 | 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 | Donor increased | 11552 | wt: 0.48 / mu: 0.59 | wt: TAGAATCCGGCGTAG mu: TAAAATCCGGCGTAG | GAAT|ccgg | Donor increased | 11545 | wt: 0.32 / mu: 0.93 | wt: CGATATCTAGAATCC mu: CGATATCTAAAATCC | ATAT|ctag |
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distance from splice site | 28 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 58 | A | D | C | L | Q | E | L | R | R | Y | L | E | S | G | V | V | L | R | R | T | V | P | P | M |
mutated | all conserved | | 58 | A | D | C | L | Q | E | L | R | R | Y | L | K | S | G | | | | | | | | | |
Ptroglodytes | all identical | ENSPTRG00000017957 | 195 | A | D | C | R | Q | K | L | K | R | Y | L | E | S | G | V | V | L | R | | | | | |
Mmulatta | all conserved | ENSMMUG00000006609 | 196 | A | D | C | L | K | K | L | R | R | Y | Q | K | S | R | V | A | V | R | R | T | V | P | P |
Fcatus | no homologue | | | |
Mmusculus | no homologue | | | |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | not conserved | ENSXETG00000030689 | 188 | H | E | C | V | S | H | L | K | L | Y | L | P | YL | K | K | D | L | E | K | K | V | P | P |
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protein features | start (aa) | end (aa) | feature | details | | 24 | 307 | TOPO_DOM | Extracellular (Potential). | lost | 54 | 59 | STRAND | | lost | 59 | 59 | DISULFID | | might get lost (downstream of altered splice site) | 64 | 64 | DISULFID | | might get lost (downstream of altered splice site) | 64 | 66 | STRAND | | might get lost (downstream of altered splice site) | 71 | 75 | STRAND | | might get lost (downstream of altered splice site) | 79 | 79 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 79 | 81 | HELIX | | might get lost (downstream of altered splice site) | 82 | 101 | HELIX | | might get lost (downstream of altered splice site) | 109 | 121 | STRAND | | might get lost (downstream of altered splice site) | 119 | 119 | DISULFID | | might get lost (downstream of altered splice site) | 127 | 135 | STRAND | | might get lost (downstream of altered splice site) | 138 | 144 | STRAND | | might get lost (downstream of altered splice site) | 145 | 148 | TURN | | might get lost (downstream of altered splice site) | 149 | 151 | STRAND | | might get lost (downstream of altered splice site) | 156 | 170 | HELIX | | might get lost (downstream of altered splice site) | 177 | 196 | HELIX | | might get lost (downstream of altered splice site) | 187 | 187 | DISULFID | | might get lost (downstream of altered splice site) | 207 | 296 | DOMAIN | Ig-like C1-type. | might get lost (downstream of altered splice site) | 208 | 213 | STRAND | | might get lost (downstream of altered splice site) | 210 | 210 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 217 | 233 | STRAND | | might get lost (downstream of altered splice site) | 220 | 220 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 225 | 225 | DISULFID | | might get lost (downstream of altered splice site) | 236 | 241 | STRAND | | might get lost (downstream of altered splice site) | 248 | 250 | TURN | | might get lost (downstream of altered splice site) | 251 | 253 | STRAND | | might get lost (downstream of altered splice site) | 260 | 262 | STRAND | | might get lost (downstream of altered splice site) | 261 | 261 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 264 | 273 | STRAND | | might get lost (downstream of altered splice site) | 277 | 279 | HELIX | | might get lost (downstream of altered splice site) | 280 | 286 | STRAND | | might get lost (downstream of altered splice site) | 282 | 282 | DISULFID | | might get lost (downstream of altered splice site) | 289 | 294 | STRAND | | might get lost (downstream of altered splice site) | 308 | 328 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 329 | 383 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) |
|
length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 585 / 585 |
position (AA) of stopcodon in wt / mu AA sequence | 195 / 195 |
position of stopcodon in wt / mu cDNA | 1737 / 1737 |
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 | 1153 / 1153 |
chromosome | 6 |
strand | 1 |
last intron/exon boundary | 1767 |
theoretical NMD boundary in CDS | 564 |
length of CDS | 585 |
coding sequence (CDS) position | 172 |
cDNA position (for ins/del: last normal base / first normal base) | 1324 |
gDNA position (for ins/del: last normal base / first normal base) | 11549 |
chromosomal position (for ins/del: last normal base / first normal base) | 31379109 |
original gDNA sequence snippet | AGGAACTACGGCGATATCTAGAATCCGGCGTAGTCCTGAGG |
altered gDNA sequence snippet | AGGAACTACGGCGATATCTAAAATCCGGCGTAGTCCTGAGG |
original cDNA sequence snippet | AGGAACTACGGCGATATCTAGAATCCGGCGTAGTCCTGAGG |
altered cDNA sequence snippet | AGGAACTACGGCGATATCTAAAATCCGGCGTAGTCCTGAGG |
wildtype AA sequence | MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLESG VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNIILT WRQDGVSLSH DTQQWGDVLP DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG CCYFCYYYFL CPLL* |
mutated AA sequence | MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLKSG VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNIILT WRQDGVSLSH DTQQWGDVLP DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG CCYFCYYYFL CPLL* |
speed | 0.86 s |
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