Prediction |
polymorphism |
Model: simple_aae, prob: 0.99999999971283 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr19:55331419C>TN/A
show variant in all transcripts IGV
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HGNC symbol | KIR3DL1 |
Ensembl transcript ID | ENST00000541392 |
Genbank transcript ID | NM_001242867 |
UniProt peptide | P43629 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.607C>T cDNA.631C>T g.95451C>T |
AA changes | P203S Score: 74 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 203 |
frameshift | no |
known variant | Reference ID: rs143886704
database | homozygous (T/T) | heterozygous | allele carriers |
1000G | 307 | 504 | 811 |
ExAC | 11163 | 10441 | 21604 |
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regulatory features | N/A |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.125 | 0.002 | | -0.713 | 0 | (flanking) | 0.173 | 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 | 95449 | wt: 0.47 / mu: 0.74 | wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC | acac|CCCC | Acc increased | 95459 | wt: 0.49 / mu: 0.66 | wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC | tcag|TTGT | Acc marginally increased | 95454 | wt: 0.7024 / mu: 0.7672 (marginal change - not scored) | wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT | ccct|ATCA | Acc marginally increased | 95447 | wt: 0.5761 / mu: 0.5775 (marginal change - not scored) | wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC | tcac|ACCC | Acc marginally increased | 95458 | wt: 0.9875 / mu: 0.9876 (marginal change - not scored) | wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC | atca|GTTG | Acc marginally increased | 95442 | wt: 0.2984 / mu: 0.3382 (marginal change - not scored) | wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG | gtta|CTCA | Acc marginally increased | 95456 | wt: 0.2752 / mu: 0.3481 (marginal change - not scored) | wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA | ctat|CAGT |
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distance from splice site | 49 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 203 | T | Y | R | C | Y | G | S | V | T | H | T | P | Y | Q | L | S | A | P | S | D | P | L | D | I |
mutated | not conserved | | 203 | T | Y | R | C | Y | G | S | V | T | H | T | S | Y | Q | L | S | A | P | S | D | P | L | D |
Ptroglodytes | no homologue | | | |
Mmulatta | no homologue | | | |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000031424 | 203 | T | Y | T | C | Y | G | A | N | S | Y | Y | P | Y | E | W | S | D | S | S | D | P | I | D |
Ggallus | all identical | ENSGALG00000018732 | 33 | K | Y | W | C | Q | Y | R | V | L | E | P | P | - | R | V | S | E | K | S | V | P | I | E |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 22 | 340 | TOPO_DOM | Extracellular (Potential). | lost | 137 | 202 | DOMAIN | Ig-like C2-type 2. | 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) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 1284 / 1284 |
position (AA) of stopcodon in wt / mu AA sequence | 428 / 428 |
position of stopcodon in wt / mu cDNA | 1308 / 1308 |
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 | 25 / 25 |
chromosome | 19 |
strand | 1 |
last intron/exon boundary | 1132 |
theoretical NMD boundary in CDS | 1057 |
length of CDS | 1284 |
coding sequence (CDS) position | 607 |
cDNA position (for ins/del: last normal base / first normal base) | 631 |
gDNA position (for ins/del: last normal base / first normal base) | 95451 |
chromosomal position (for ins/del: last normal base / first normal base) | 55331419 |
original gDNA sequence snippet | ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC |
altered gDNA sequence snippet | ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC |
original cDNA sequence snippet | ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC |
altered cDNA sequence snippet | ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC |
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 LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR SKVVSCP* |
mutated AA sequence | MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF SIGPMMLALA GTYRCYGSVT HTSYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS PYEWSDPSDP LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR SKVVSCP* |
speed | 1.02 s |
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