Prediction |
polymorphism |
Model: simple_aae, prob: 0.998978952684141 (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 CM067794)
- 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) | chr8:20036713A>GN/A
show variant in all transcripts IGV
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HGNC symbol | SLC18A1 |
Ensembl transcript ID | ENST00000265808 |
Genbank transcript ID | NM_001142324 |
UniProt peptide | P54219 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.407T>C cDNA.787T>C g.4005T>C |
AA changes | I136T Score: 89 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 136 |
frameshift | no |
known variant | Reference ID: rs1390938
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | 1432 | 863 | 2295 |
ExAC | 32644 | -32521 | 123 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.32 | 0.141 | | 2.934 | 0.991 | (flanking) | 4.427 | 1 | 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 | 4000 | wt: 0.63 / mu: 0.84 | wt: GAGGAAGAGATTACC mu: GAGGAAGAGACTACC | GGAA|gaga | Donor increased | 3997 | wt: 0.86 / mu: 0.95 | wt: TTGGAGGAAGAGATT mu: TTGGAGGAAGAGACT | GGAG|gaag | Donor marginally increased | 4007 | wt: 0.7091 / mu: 0.7694 (marginal change - not scored) | wt: AGATTACCCGGGTCG mu: AGACTACCCGGGTCG | ATTA|cccg | Donor increased | 3996 | wt: 0.41 / mu: 0.45 | wt: CTTGGAGGAAGAGAT mu: CTTGGAGGAAGAGAC | TGGA|ggaa |
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distance from splice site | 82 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 136 | C | L | Q | G | T | G | F | L | E | E | E | I | T | R | V | G | V | L | F | A | S | K | A | V |
mutated | not conserved | | 136 | C | L | Q | G | T | G | F | L | E | E | E | T | T | R | V | G | V | L | F | A | S | K | A |
Ptroglodytes | not conserved | ENSPTRG00000020039 | 136 | C | L | Q | G | T | E | F | L | E | E | E | N | T | R | V | G | I | L | F | A | S | K | A |
Mmulatta | not conserved | ENSMMUG00000019999 | 136 | C | L | Q | G | T | E | F | L | E | E | E | N | T | R | V | G | I | L | F | A | S | K | A |
Fcatus | no homologue | | | |
Mmusculus | not conserved | ENSMUSG00000036330 | 133 | C | L | Q | G | I | E | F | L | E | E | E | N | V | R | I | G | I | L | F | A | S | K | A |
Ggallus | not conserved | ENSGALG00000001693 | 138 | C | P | Q | G | E | E | F | L | T | Q | E | N | M | R | V | G | L | L | F | A | S | K | A |
Trubripes | not conserved | ENSTRUG00000012619 | 139 | C | L | Q | D | S | L | F | L | E | E | E | N | V | R | V | G | F | L | F | A | S | K | A |
Drerio | no homologue | | | |
Dmelanogaster | not conserved | FBgn0260964 | 237 | | | | | | | | | | - | E | T | V | E | V | G | L | L | F | A | S | K | A |
Celegans | not conserved | W01C8.6 | 157 | E | E | E | R | H | K | L | L | A | S | E | N | V | H | V | G | L | M | F | G | S | K | A |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 43 | 138 | TOPO_DOM | Lumenal, vesicle (Potential). | lost | 139 | 158 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 159 | 167 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 168 | 188 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 189 | 197 | TOPO_DOM | Lumenal, vesicle (Potential). | might get lost (downstream of altered splice site) | 198 | 218 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 219 | 227 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 228 | 250 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 251 | 256 | TOPO_DOM | Lumenal, vesicle (Potential). | might get lost (downstream of altered splice site) | 257 | 279 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 280 | 299 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 300 | 319 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 320 | 335 | TOPO_DOM | Lumenal, vesicle (Potential). | might get lost (downstream of altered splice site) | 336 | 360 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 361 | 365 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 366 | 386 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 387 | 397 | TOPO_DOM | Lumenal, vesicle (Potential). | might get lost (downstream of altered splice site) | 398 | 418 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 419 | 422 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 423 | 443 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 444 | 448 | TOPO_DOM | Lumenal, vesicle (Potential). | might get lost (downstream of altered splice site) | 449 | 470 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 471 | 525 | 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 | 1482 / 1482 |
position (AA) of stopcodon in wt / mu AA sequence | 494 / 494 |
position of stopcodon in wt / mu cDNA | 1862 / 1862 |
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 | 381 / 381 |
chromosome | 8 |
strand | -1 |
last intron/exon boundary | 1749 |
theoretical NMD boundary in CDS | 1318 |
length of CDS | 1482 |
coding sequence (CDS) position | 407 |
cDNA position (for ins/del: last normal base / first normal base) | 787 |
gDNA position (for ins/del: last normal base / first normal base) | 4005 |
chromosomal position (for ins/del: last normal base / first normal base) | 20036713 |
original gDNA sequence snippet | AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT |
altered gDNA sequence snippet | AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT |
original cDNA sequence snippet | AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT |
altered cDNA sequence snippet | AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT |
wildtype AA sequence | MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP LGEDSDEEPD HEE* |
mutated AA sequence | MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP LGEDSDEEPD HEE* |
speed | 0.80 s |
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