Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999941 (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) | chr19:55329901A>GN/A
show variant in all transcripts IGV
|
| HGNC symbol | KIR3DL1 |
| Ensembl transcript ID | ENST00000538269 |
| Genbank transcript ID | N/A |
| UniProt peptide | P43629 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.202A>G
cDNA.229A>G
g.93933A>G |
| AA changes | I68V Score: 29 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 68 |
| frameshift | no |
| known variant | Reference ID: rs643347
| database | homozygous (G/G) | heterozygous | allele carriers |
| 1000G | 1139 | 678 | 1817 |
| ExAC | 10328 | 10095 | 20423 |
|
| regulatory features | N/A |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -1.887 | 0 | | -0.273 | 0 | | (flanking) | -2.224 | 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 | 93927 | wt: 0.40 / mu: 0.99 | wt: ACAGAATCCACATTC
mu: ACAGAATCCACGTTC | AGAA|tcca | | Donor marginally increased | 93924 | wt: 0.4294 / mu: 0.4683 (marginal change - not scored) | wt: AAGACAGAATCCACA
mu: AAGACAGAATCCACG | GACA|gaat |
|
| distance from splice site | 132 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 68 | N | F | M | L | Y | K | E | D | R | I | H | I | P | I | F | H | G | R | I | F | Q | E | S | F |
| mutated | all conserved | | 68 | | | | | Y | K | E | D | R | I | H | V | P | I | F | H | G | R | I | F | Q | E | S |
| Ptroglodytes | no homologue | | | |
| Mmulatta | no homologue | | | |
| Fcatus | no homologue | | | |
| Mmusculus | not conserved | ENSMUSG00000031424 | 68 | | | | | Y | K | E | E | G | S | P | N | H | Q | L | H | E | T | T | F | Q | K | S |
| Ggallus | no alignment | ENSGALG00000018732 | n/a | |
| Trubripes | no homologue | | | |
| Drerio | no homologue | | | |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | no homologue | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 22 | 340 | TOPO_DOM | Extracellular (Potential). | lost | | 42 | 102 | DOMAIN | Ig-like C2-type 1. | lost | | 66 | 68 | STRAND | | lost | | 70 | 73 | HELIX | | might get lost (downstream of altered splice site) | | 76 | 78 | STRAND | | might get lost (downstream of altered splice site) | | 80 | 82 | STRAND | | might get lost (downstream of altered splice site) | | 87 | 89 | HELIX | | might get lost (downstream of altered splice site) | | 91 | 98 | STRAND | | might get lost (downstream of altered splice site) | | 92 | 92 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 95 | 95 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 100 | 106 | STRAND | | might get lost (downstream of altered splice site) | | 113 | 118 | STRAND | | might get lost (downstream of altered splice site) | | 125 | 130 | STRAND | | might get lost (downstream of altered splice site) | | 132 | 135 | STRAND | | might get lost (downstream of altered splice site) | | 137 | 202 | DOMAIN | Ig-like C2-type 2. | might get lost (downstream of altered splice site) | | 140 | 148 | STRAND | | might get lost (downstream of altered splice site) | | 144 | 144 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 151 | 157 | STRAND | | might get lost (downstream of altered splice site) | | 165 | 168 | STRAND | | might get lost (downstream of altered splice site) | | 170 | 172 | STRAND | | might get lost (downstream of altered splice site) | | 175 | 182 | STRAND | | might get lost (downstream of altered splice site) | | 179 | 179 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 187 | 189 | HELIX | | might get lost (downstream of altered splice site) | | 191 | 198 | STRAND | | might get lost (downstream of altered splice site) | | 195 | 195 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 213 | 218 | STRAND | | might get lost (downstream of altered splice site) | | 225 | 230 | STRAND | | might get lost (downstream of altered splice site) | | 237 | 300 | DOMAIN | Ig-like C2-type 3. | might get lost (downstream of altered splice site) | | 241 | 248 | STRAND | | might get lost (downstream of altered splice site) | | 244 | 244 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 251 | 257 | STRAND | | might get lost (downstream of altered splice site) | | 264 | 267 | STRAND | | might get lost (downstream of altered splice site) | | 273 | 273 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 276 | 281 | STRAND | | might get lost (downstream of altered splice site) | | 289 | 297 | STRAND | | might get lost (downstream of altered splice site) | | 293 | 293 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | | 311 | 313 | STRAND | | might get lost (downstream of altered splice site) | | 341 | 360 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 361 | 444 | 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 | 1335 / 1335 |
| position (AA) of stopcodon in wt / mu AA sequence | 445 / 445 |
| position of stopcodon in wt / mu cDNA | 1362 / 1362 |
| 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 | 28 / 28 |
| chromosome | 19 |
| strand | 1 |
| last intron/exon boundary | 1186 |
| theoretical NMD boundary in CDS | 1108 |
| length of CDS | 1335 |
| coding sequence (CDS) position | 202 |
cDNA position
(for ins/del: last normal base / first normal base) | 229 |
gDNA position
(for ins/del: last normal base / first normal base) | 93933 |
chromosomal position
(for ins/del: last normal base / first normal base) | 55329901 |
| original gDNA sequence snippet | ACAAAGAAGACAGAATCCACATTCCCATCTTCCATGGCAGA |
| altered gDNA sequence snippet | ACAAAGAAGACAGAATCCACGTTCCCATCTTCCATGGCAGA |
| original cDNA sequence snippet | ACAAAGAAGACAGAATCCACATTCCCATCTTCCATGGCAGA |
| altered cDNA sequence snippet | ACAAAGAAGACAGAATCCACGTTCCCATCTTCCATGGCAGA |
| wildtype AA sequence | MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP* |
| mutated AA sequence | MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHVPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP* |
| speed | 1.14 s |
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