Prediction |
polymorphism |
Model: simple_aae, prob: 2.77206729607238e-12 (classification due to TGP/ExAC,
real probability is shown anyway)
(explain) |
| Summary |
- amino acid sequence changed
- homozygous in TGP or ExAC
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr1:156347131G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | RHBG |
| Ensembl transcript ID | ENST00000400992 |
| Genbank transcript ID | N/A |
| UniProt peptide | Q9H310 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.20G>A
cDNA.388G>A
g.8129G>A |
| AA changes | G7D Score: 94 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 7 |
| frameshift | no |
| known variant | Reference ID: rs2245623
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 229 | 897 | 1126 |
| ExAC | 9393 | 13981 | 23374 |
|
| regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 5.493 | 1 | | 5.493 | 1 | | (flanking) | 1.043 | 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 increased | 8129 | wt: 0.52 / mu: 0.59 | wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC
mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC | ttgg|CTTC |
|
| distance from splice site | 40 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 7 | | | | | | M | V | F | V | G | F | G | F | L | M | V | F | L | Q | R | Y | G | F | S |
| mutated | not conserved | | 7 | | | | | | M | V | F | V | G | F | D | F | L | M | V | F | L | Q | R | Y | G | F | S | S | V | G |
| Ptroglodytes | all identical | ENSPTRG00000001458 | 76 | | | | | | M | V | F | V | G | F | G | F | L | M | V | F | L | Q | R | Y | G | F | S | S | V | G |
| Mmulatta | all identical | ENSMMUG00000017965 | 113 | | | | | | M | V | F | V | G | F | G | F | L | M | V | F | L | Q | R | Y | G | F | S | S | V | G |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000001417 | 73 | | | | | | M | V | F | V | G | F | G | F | L | M | V | F | L | Q | R | Y | G | F | S | S | V | G |
| Ggallus | all identical | ENSGALG00000013232 | 15 | | | | | | | | | L | G | F | G | F | L | L | A | F | L | S | R | Y | G | V | G | S | V | A |
| Trubripes | all identical | ENSTRUG00000005400 | 73 | | | | | | M | I | F | V | G | F | G | F | L | M | T | F | L | Q | R | Y | G | F | G | S | V | G |
| Drerio | all identical | ENSDARG00000009018 | 73 | | | | | | M | I | F | V | G | F | G | F | L | M | T | F | L | Q | R | Y | G | F | S | S | M | G |
| Dmelanogaster | all identical | FBgn0028699 | 70 | | | | | | M | I | F | I | G | F | G | F | L | M | T | F | L | R | K | Y | G | Y | S | A | T | G |
| Celegans | all identical | F08F3.3 | 68 | | | | | | M | I | F | I | G | F | G | F | L | M | T | F | L | K | R | Y | G | F | S | A | V | S |
| Xtropicalis | all identical | ENSXETG00000019898 | 83 | | | | | | M | I | F | I | G | F | G | F | L | M | T | F | L | K | R | Y | G | F | S | S | V | A |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 1 | 13 | TOPO_DOM | Cytoplasmic (Potential). | lost | | 14 | 34 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 35 | 61 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 49 | 49 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 62 | 82 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 83 | 86 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 87 | 107 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 108 | 124 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 125 | 145 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 146 | 149 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 150 | 170 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 171 | 178 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 179 | 201 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 202 | 219 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 220 | 240 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 241 | 251 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 252 | 272 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 273 | 282 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 283 | 303 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 304 | 304 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 305 | 325 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 326 | 346 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 347 | 367 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 368 | 393 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 394 | 414 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 415 | 441 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 416 | 424 | REGION | Interaction with ANK3. | might get lost (downstream of altered splice site) | | 419 | 419 | MUTAGEN | F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421. | might get lost (downstream of altered splice site) | | 420 | 420 | MUTAGEN | L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421. | might get lost (downstream of altered splice site) | | 421 | 421 | MUTAGEN | D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420. | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1230 / 1230 |
| position (AA) of stopcodon in wt / mu AA sequence | 410 / 410 |
| position of stopcodon in wt / mu cDNA | 1598 / 1598 |
| 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 | 369 / 369 |
| chromosome | 1 |
| strand | 1 |
| last intron/exon boundary | 1582 |
| theoretical NMD boundary in CDS | 1163 |
| length of CDS | 1230 |
| coding sequence (CDS) position | 20 |
cDNA position
(for ins/del: last normal base / first normal base) | 388 |
gDNA position
(for ins/del: last normal base / first normal base) | 8129 |
chromosomal position
(for ins/del: last normal base / first normal base) | 156347131 |
| original gDNA sequence snippet | CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC |
| altered gDNA sequence snippet | CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC |
| original cDNA sequence snippet | CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC |
| altered cDNA sequence snippet | CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC |
| wildtype AA sequence | MVFVGFGFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMVH IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGY KFFTPILESK
FKVQDTCGVH NLHGMPGVLG ALLGVLVAGL ATHEAYGDGL ESVFPLIAEG QRSATSQAMH
QLFGLFVTLM FASVGGGLGG LLLKLPFLDS PPRLPALRGP SSLAGAWRA* |
| mutated AA sequence | MVFVGFDFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMVH IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGY KFFTPILESK
FKVQDTCGVH NLHGMPGVLG ALLGVLVAGL ATHEAYGDGL ESVFPLIAEG QRSATSQAMH
QLFGLFVTLM FASVGGGLGG LLLKLPFLDS PPRLPALRGP SSLAGAWRA* |
| speed | 1.26 s |
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