Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999998 (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 CM074876)
- 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) | chr19:52249947C>GN/A
show variant in all transcripts IGV
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HGNC symbol | FPR1 |
Ensembl transcript ID | ENST00000304748 |
Genbank transcript ID | NM_002029 |
UniProt peptide | P21462 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.301G>C cDNA.396G>C g.5204G>C |
AA changes | V101L Score: 32 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 101 |
frameshift | no |
known variant | Reference ID: rs2070745
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | 407 | 1158 | 1565 |
ExAC | 9834 | 13099 | 22933 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM074876)
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.305 | 0.001 | | -0.187 | 0.001 | (flanking) | -0.33 | 0.005 | 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 | 5214 | wt: 0.20 / mu: 0.37 | wt: GTGCAAATTCGTCTTTACCATAGTGGACATCAACTTGTTCG mu: GTGCAAATTCCTCTTTACCATAGTGGACATCAACTTGTTCG | ccat|AGTG | Acc increased | 5213 | wt: 0.68 / mu: 0.88 | wt: TGTGCAAATTCGTCTTTACCATAGTGGACATCAACTTGTTC mu: TGTGCAAATTCCTCTTTACCATAGTGGACATCAACTTGTTC | acca|TAGT | Acc increased | 5211 | wt: 0.25 / mu: 0.65 | wt: CCTGTGCAAATTCGTCTTTACCATAGTGGACATCAACTTGT mu: CCTGTGCAAATTCCTCTTTACCATAGTGGACATCAACTTGT | ttac|CATA | Acc marginally increased | 5199 | wt: 0.8481 / mu: 0.8655 (marginal change - not scored) | wt: TTTCGGCTGGTTCCTGTGCAAATTCGTCTTTACCATAGTGG mu: TTTCGGCTGGTTCCTGTGCAAATTCCTCTTTACCATAGTGG | gcaa|ATTC | Donor marginally increased | 5195 | wt: 0.9142 / mu: 0.9676 (marginal change - not scored) | wt: TCCTGTGCAAATTCG mu: TCCTGTGCAAATTCC | CTGT|gcaa |
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distance from splice site | 312 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 101 | H | W | P | F | G | W | F | L | C | K | F | V | F | T | I | V | D | I | N | L | F | G | S | V |
mutated | all conserved | | 101 | H | W | P | F | G | W | F | L | C | K | F | L | F | T | I | V | D | I | N | L | F | G | S |
Ptroglodytes | all conserved | ENSPTRG00000011395 | 101 | H | W | P | F | G | W | F | L | C | K | F | I | F | T | I | V | D | I | N | L | F | G | S |
Mmulatta | all conserved | ENSMMUG00000013049 | 101 | H | W | P | F | G | W | F | L | C | K | F | I | F | S | I | V | D | I | N | L | F | G | S |
Fcatus | no homologue | | | |
Mmusculus | all conserved | ENSMUSG00000045551 | 109 | H | W | P | F | G | W | F | M | C | K | F | I | Y | T | V | I | D | I | N | L | F | G | S |
Ggallus | no homologue | | | |
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 | | 101 | 121 | TRANSMEM | Helical; Name=3; (Potential). | lost | 122 | 140 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 141 | 162 | TRANSMEM | Helical; Name=4; (Potential). | might get lost (downstream of altered splice site) | 163 | 205 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 176 | 176 | DISULFID | Potential. | might get lost (downstream of altered splice site) | 206 | 226 | TRANSMEM | Helical; Name=5; (Potential). | might get lost (downstream of altered splice site) | 227 | 242 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 238 | 238 | CONFLICT | R -> P (in Ref. 1; AAA36362). | might get lost (downstream of altered splice site) | 243 | 266 | TRANSMEM | Helical; Name=6; (Potential). | might get lost (downstream of altered splice site) | 267 | 285 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 286 | 305 | TRANSMEM | Helical; Name=7; (Potential). | might get lost (downstream of altered splice site) | 306 | 350 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 328 | 328 | MOD_RES | Phosphoserine (Potential). | might get lost (downstream of altered splice site) | 329 | 329 | MOD_RES | Phosphothreonine (Potential). | might get lost (downstream of altered splice site) | 331 | 331 | MOD_RES | Phosphothreonine (Potential). | might get lost (downstream of altered splice site) | 332 | 332 | MOD_RES | Phosphoserine (Potential). | might get lost (downstream of altered splice site) | 334 | 334 | MOD_RES | Phosphothreonine (Potential). | might get lost (downstream of altered splice site) | 336 | 336 | MOD_RES | Phosphothreonine (Potential). | might get lost (downstream of altered splice site) | 338 | 338 | MOD_RES | Phosphoserine (Potential). | might get lost (downstream of altered splice site) | 339 | 339 | MOD_RES | Phosphothreonine (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 | 1053 / 1053 |
position (AA) of stopcodon in wt / mu AA sequence | 351 / 351 |
position of stopcodon in wt / mu cDNA | 1148 / 1148 |
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 | 96 / 96 |
chromosome | 19 |
strand | -1 |
last intron/exon boundary | 85 |
theoretical NMD boundary in CDS | cannot be calculated, too little distance between start ATG and last intron/exon boundary |
length of CDS | 1053 |
coding sequence (CDS) position | 301 |
cDNA position (for ins/del: last normal base / first normal base) | 396 |
gDNA position (for ins/del: last normal base / first normal base) | 5204 |
chromosomal position (for ins/del: last normal base / first normal base) | 52249947 |
original gDNA sequence snippet | GCTGGTTCCTGTGCAAATTCGTCTTTACCATAGTGGACATC |
altered gDNA sequence snippet | GCTGGTTCCTGTGCAAATTCCTCTTTACCATAGTGGACATC |
original cDNA sequence snippet | GCTGGTTCCTGTGCAAATTCGTCTTTACCATAGTGGACATC |
altered cDNA sequence snippet | GCTGGTTCCTGTGCAAATTCCTCTTTACCATAGTGGACATC |
wildtype AA sequence | METNSSLPTN ISGGTPAVSA GYLFLDIITY LVFAVTFVLG VLGNGLVIWV AGFRMTHTVT TISYLNLAVA DFCFTSTLPF FMVRKAMGGH WPFGWFLCKF VFTIVDINLF GSVFLIALIA LDRCVCVLHP VWTQNHRTVS LAKKVIIGPW VMALLLTLPV IIRVTTVPGK TGTVACTFNF SPWTNDPKER INVAVAMLTV RGIIRFIIGF SAPMSIVAVS YGLIATKIHK QGLIKSSRPL RVLSFVAAAF FLCWSPYQVV ALIATVRIRE LLQGMYKEIG IAVDVTSALA FFNSCLNPML YVFMGQDFRE RLIHALPASL ERALTEDSTQ TSDTATNSTL PSAEVELQAK * |
mutated AA sequence | METNSSLPTN ISGGTPAVSA GYLFLDIITY LVFAVTFVLG VLGNGLVIWV AGFRMTHTVT TISYLNLAVA DFCFTSTLPF FMVRKAMGGH WPFGWFLCKF LFTIVDINLF GSVFLIALIA LDRCVCVLHP VWTQNHRTVS LAKKVIIGPW VMALLLTLPV IIRVTTVPGK TGTVACTFNF SPWTNDPKER INVAVAMLTV RGIIRFIIGF SAPMSIVAVS YGLIATKIHK QGLIKSSRPL RVLSFVAAAF FLCWSPYQVV ALIATVRIRE LLQGMYKEIG IAVDVTSALA FFNSCLNPML YVFMGQDFRE RLIHALPASL ERALTEDSTQ TSDTATNSTL PSAEVELQAK * |
speed | 0.61 s |
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