Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999998731953 (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 CM0911238)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr11:74883577G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | SLCO2B1 |
| Ensembl transcript ID | ENST00000532236 |
| Genbank transcript ID | N/A |
| UniProt peptide | O94956 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.587G>A
cDNA.987G>A
g.71970G>A |
| AA changes | R196Q Score: 43 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 196 |
| frameshift | no |
| known variant | Reference ID: rs12422149
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 160 | 731 | 891 |
| ExAC | 2692 | 15639 | 18331 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
|
| regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -0.01 | 0 | | -0.334 | 0 | | (flanking) | 0.029 | 0.001 |
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 marginally increased | 71967 | wt: 0.9567 / mu: 0.9589 (marginal change - not scored) | wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT | TTCG|gcga | | Donor marginally increased | 71968 | wt: 0.9646 / mu: 0.9783 (marginal change - not scored) | wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC | TCGG|cgaa | | Donor gained | 71966 | 0.69 | mu: AGTTTCGGCAAAAGG | TTTC|ggca |
|
| distance from splice site | 38 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 196 | M | P | K | E | K | R | E | L | Q | F | R | R | K | V | L | A | V | T | D | S | P | A | R | K |
| mutated | all conserved | | 196 | M | P | K | E | K | R | E | L | Q | F | R | Q | K | V | L | A | V | T | D | S | P | A | R |
| Ptroglodytes | all identical | ENSPTRG00000004078 | 312 | M | P | K | E | K | R | E | L | Q | F | R | R | K | V | L | A | V | T | D | S | P | A | R |
| Mmulatta | all identical | ENSMMUG00000009126 | 312 | M | P | K | E | K | H | E | L | Q | F | R | R | K | V | L | A | V | T | D | S | P | A | R |
| Fcatus | all identical | ENSFCAG00000011940 | 314 | M | P | K | E | K | Q | E | L | R | F | W | R | K | V | L | T | V | S | D | S | P | V | S |
| Mmusculus | all identical | ENSMUSG00000030737 | 314 | M | P | K | E | K | H | E | F | H | F | R | R | K | V | L | A | S | A | A | S | T | A | S |
| Ggallus | no homologue | | | |
| Trubripes | no homologue | | | |
| Drerio | not conserved | ENSDARG00000054609 | 281 | M | S | K | E | E | - | - | - | - | - | - | - | - | - | - | - | I | E | E | A | P | V | - |
| Dmelanogaster | all conserved | FBgn0036732 | 454 | - | - | - | - | - | - | - | L | R | G | K | Q | K | P | P | G | Q | T | A | T | P | A | - |
| Celegans | not conserved | Y32F6B.1 | 348 | | | | | | | | | | | D | D | D | - | - | - | - | - | - | - | - | - | - |
| Xtropicalis | no homologue | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 186 | 215 | TRANSMEM | Helical; Name=4; (Potential). | lost | | 215 | 215 | CONFLICT | D -> V (in Ref. 6). | might get lost (downstream of altered splice site) | | 216 | 234 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 235 | 255 | TRANSMEM | Helical; Name=5; (Potential). | might get lost (downstream of altered splice site) | | 256 | 273 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 274 | 298 | TRANSMEM | Helical; Name=6; (Potential). | might get lost (downstream of altered splice site) | | 299 | 366 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 367 | 388 | TRANSMEM | Helical; Name=7; (Potential). | might get lost (downstream of altered splice site) | | 389 | 408 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 409 | 432 | TRANSMEM | Helical; Name=8; (Potential). | might get lost (downstream of altered splice site) | | 433 | 436 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 437 | 460 | TRANSMEM | Helical; Name=9; (Potential). | might get lost (downstream of altered splice site) | | 461 | 564 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 483 | 543 | DOMAIN | Kazal-like. | might get lost (downstream of altered splice site) | | 489 | 489 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 493 | 493 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 495 | 495 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 504 | 504 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 516 | 516 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 520 | 520 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 538 | 538 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 565 | 587 | TRANSMEM | Helical; Name=10; (Potential). | might get lost (downstream of altered splice site) | | 588 | 596 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 597 | 622 | TRANSMEM | Helical; Name=11; (Potential). | might get lost (downstream of altered splice site) | | 623 | 655 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 656 | 673 | TRANSMEM | Helical; Name=12; (Potential). | might get lost (downstream of altered splice site) | | 674 | 709 | 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 | 1782 / 1782 |
| position (AA) of stopcodon in wt / mu AA sequence | 594 / 594 |
| position of stopcodon in wt / mu cDNA | 2182 / 2182 |
| 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 | 401 / 401 |
| chromosome | 11 |
| strand | 1 |
| last intron/exon boundary | 2002 |
| theoretical NMD boundary in CDS | 1551 |
| length of CDS | 1782 |
| coding sequence (CDS) position | 587 |
cDNA position
(for ins/del: last normal base / first normal base) | 987 |
gDNA position
(for ins/del: last normal base / first normal base) | 71970 |
chromosomal position
(for ins/del: last normal base / first normal base) | 74883577 |
| original gDNA sequence snippet | ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG |
| altered gDNA sequence snippet | ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG |
| original cDNA sequence snippet | ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG |
| altered cDNA sequence snippet | ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG |
| wildtype AA sequence | MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPEDMPQDF KASLCLPTTS APASAPSNGN
CSSYTETQHL SVVGIMFVAQ TLLGVGGVPI QPFGISYIDD FAHNSNSPLY LGILFAVTMM
GPGLAFGLGS LMLRLYVDIN QMPEGGISLT IKDPRWVGAW WLGFLIAAGA VALAAIPYFF
FPKEMPKEKR ELQFRRKVLA VTDSPARKGK DSPSKQSPGE STKKQDGLVQ IAPNLTVIQF
IKVFPRVLLQ TLRHPIFLLV VLSQVCLSSM AAGMAIFLPK FLERQFSITA SYANLLIGCL
SFPSVIVGIV VGGVLVKRLH LGPVGCGALC LLGMLLCLFF SLPLFFIGCS SHQIAGITHQ
TSAHPGLELS PSCMEACSCP LDGFNPVCDP STRVEYITPC HAGCSSWVVQ DALDNSQVFY
TNCSCVVEGN PVLAGSCDST CSHLVVPFLL LVSLGSALAC LTHTPSFMLI LRGVKKEDKT
LAVGIQFMFL RILAWMPSPV IHGSAIDTTC VHWALSCGRR AVCRYYNNDL LRNRFIGLQF
FFKTGSVICF ALVLAVLRQQ DKEARTKESR SSPAVEQQLL VSGPGKKPED SRV* |
| mutated AA sequence | MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPEDMPQDF KASLCLPTTS APASAPSNGN
CSSYTETQHL SVVGIMFVAQ TLLGVGGVPI QPFGISYIDD FAHNSNSPLY LGILFAVTMM
GPGLAFGLGS LMLRLYVDIN QMPEGGISLT IKDPRWVGAW WLGFLIAAGA VALAAIPYFF
FPKEMPKEKR ELQFRQKVLA VTDSPARKGK DSPSKQSPGE STKKQDGLVQ IAPNLTVIQF
IKVFPRVLLQ TLRHPIFLLV VLSQVCLSSM AAGMAIFLPK FLERQFSITA SYANLLIGCL
SFPSVIVGIV VGGVLVKRLH LGPVGCGALC LLGMLLCLFF SLPLFFIGCS SHQIAGITHQ
TSAHPGLELS PSCMEACSCP LDGFNPVCDP STRVEYITPC HAGCSSWVVQ DALDNSQVFY
TNCSCVVEGN PVLAGSCDST CSHLVVPFLL LVSLGSALAC LTHTPSFMLI LRGVKKEDKT
LAVGIQFMFL RILAWMPSPV IHGSAIDTTC VHWALSCGRR AVCRYYNNDL LRNRFIGLQF
FFKTGSVICF ALVLAVLRQQ DKEARTKESR SSPAVEQQLL VSGPGKKPED SRV* |
| speed | 0.92 s |
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