Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999999 (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) | chr5:180338368A>GN/A
show variant in all transcripts IGV
|
| HGNC symbol | BTNL8 |
| Ensembl transcript ID | ENST00000400707 |
| Genbank transcript ID | NM_001159709 |
| UniProt peptide | Q6UX41 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.52A>G
cDNA.319A>G
g.12292A>G |
| AA changes | T18A Score: 58 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 18 |
| frameshift | no |
| known variant | Reference ID: rs2276995
| database | homozygous (G/G) | heterozygous | allele carriers |
| 1000G | 523 | 1120 | 1643 |
| ExAC | 9336 | 14095 | 23431 |
|
| regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -1.799 | 0 | | -1.401 | 0 | | (flanking) | -3.651 | 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 | | Acc increased | 12283 | wt: 0.59 / mu: 0.70 | wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT | ctca|TTTC | | Acc marginally increased | 12300 | wt: 0.7056 / mu: 0.7155 (marginal change - not scored) | wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT | atat|GTTG | | Acc marginally increased | 12293 | wt: 0.8593 / mu: 0.8751 (marginal change - not scored) | wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA | tcac|GGGA | | Acc marginally increased | 12288 | wt: 0.9542 / mu: 0.9706 (marginal change - not scored) | wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG | ttcc|ATCA | | Acc increased | 12284 | wt: 0.29 / mu: 0.38 | wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG | tcat|TTCC | | Acc increased | 12291 | wt: 0.35 / mu: 0.72 | wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA | catc|ACGG | | Acc marginally increased | 12290 | wt: 0.8637 / mu: 0.9037 (marginal change - not scored) | wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG | ccat|CACG | | Acc marginally increased | 12282 | wt: 0.2015 / mu: 0.2457 (marginal change - not scored) | wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT | tctc|ATTT |
|
| distance from splice site | 30 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 18 | K | S | L | G | S | V | P | L | I | S | I | T | G | Y | V | D | R | D | I | Q | L | L | C | Q |
| mutated | not conserved | | 18 | K | S | L | G | S | V | P | L | I | S | I | A | G | Y | V | D | R | D | I | Q | L | L | C |
| Ptroglodytes | not conserved | ENSPTRG00000017644 | 143 | S | A | L | G | S | V | P | L | I | S | I | A | G | Y | V | D | R | D | I | Q | L | L | C |
| Mmulatta | not conserved | ENSMMUG00000019858 | 144 | S | A | L | G | S | V | P | L | I | S | I | V | G | Y | V | D | R | G | I | Q | L | L | C |
| Fcatus | no homologue | | | |
| Mmusculus | no homologue | | | |
| Ggallus | no homologue | | | |
| Trubripes | no homologue | | | |
| Drerio | no homologue | | | |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | no homologue | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 1 | 17 | SIGNAL | | might get lost (downstream of altered splice site) | | 18 | 238 | TOPO_DOM | Extracellular (Potential). | lost | | 19 | 132 | DOMAIN | Ig-like V-type 1. | might get lost (downstream of altered splice site) | | 40 | 40 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 103 | 103 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 114 | 114 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 133 | 222 | DOMAIN | Ig-like V-type 2. | might get lost (downstream of altered splice site) | | 154 | 154 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 206 | 206 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 239 | 259 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 260 | 500 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 270 | 466 | DOMAIN | B30.2/SPRY. | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1128 / 1128 |
| position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 |
| position of stopcodon in wt / mu cDNA | 1395 / 1395 |
| 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 | 268 / 268 |
| chromosome | 5 |
| strand | 1 |
| last intron/exon boundary | 755 |
| theoretical NMD boundary in CDS | 437 |
| length of CDS | 1128 |
| coding sequence (CDS) position | 52 |
cDNA position
(for ins/del: last normal base / first normal base) | 319 |
gDNA position
(for ins/del: last normal base / first normal base) | 12292 |
chromosomal position
(for ins/del: last normal base / first normal base) | 180338368 |
| original gDNA sequence snippet | CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC |
| altered gDNA sequence snippet | CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC |
| original cDNA sequence snippet | CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC |
| altered cDNA sequence snippet | CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC |
| wildtype AA sequence | MWTWFVKSLG SVPLISITGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM* |
| mutated AA sequence | MWTWFVKSLG SVPLISIAGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM* |
| speed | 1.18 s |
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