Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999996 (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 CM105494)
- 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) | chr17:3480447T>CN/A
show variant in all transcripts IGV
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HGNC symbol | TRPV1 |
Ensembl transcript ID | ENST00000425167 |
Genbank transcript ID | N/A |
UniProt peptide | Q8NER1 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.1786A>G cDNA.1803A>G g.19946A>G |
AA changes | I596V Score: 29 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 596 |
frameshift | no |
known variant | Reference ID: rs8065080
database | homozygous (C/C) | heterozygous | allele carriers |
1000G | 360 | 871 | 1231 |
ExAC | 5311 | 17262 | 22573 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM105494)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.062 | 0.003 | | -0.127 | 0.002 | (flanking) | 0.012 | 0.031 | 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 marginally increased | 19947 | wt: 0.6254 / mu: 0.6277 (marginal change - not scored) | wt: CCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTT mu: CCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTT | acat|CGTC | Acc marginally increased | 19956 | wt: 0.9796 / mu: 0.9823 (marginal change - not scored) | wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA | tctt|GTTC | Acc marginally increased | 19945 | wt: 0.9175 / mu: 0.9642 (marginal change - not scored) | wt: TGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTT mu: TGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTT | ctac|ATCG | Acc increased | 19939 | wt: 0.41 / mu: 0.52 | wt: GACCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTT mu: GACCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTT | gttt|GTCT | Acc marginally increased | 19952 | wt: 0.3835 / mu: 0.3941 (marginal change - not scored) | wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA | gtct|TCTT | Acc marginally increased | 19957 | wt: 0.9091 / mu: 0.9162 (marginal change - not scored) | wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA | cttg|TTCG | Acc increased | 19953 | wt: 0.22 / mu: 0.36 | wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG | tctt|CTTG | Acc marginally increased | 19941 | wt: 0.2636 / mu: 0.2878 (marginal change - not scored) | wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG | ttgt|CTAC | Acc marginally increased | 19950 | wt: 0.2244 / mu: 0.2269 (marginal change - not scored) | wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA | tcgt|CTTC | Acc increased | 19955 | wt: 0.74 / mu: 0.87 | wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT | ttct|TGTT | Acc marginally increased | 19937 | wt: 0.6521 / mu: 0.6907 (marginal change - not scored) | wt: GAGACCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTG mu: GAGACCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTG | atgt|TTGT | Donor gained | 19940 | 0.78 | mu: TGTTTGTCTACGTCG | TTTG|tcta |
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distance from splice site | 28 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 596 | L | R | D | L | C | R | F | M | F | V | Y | I | V | F | L | F | G | F | S | T | A | V | V | T |
mutated | all conserved | | 596 | L | R | D | L | C | R | F | M | F | V | Y | V | V | F | L | F | | | | | | | |
Ptroglodytes | all conserved | ENSPTRG00000024045 | 532 | L | R | D | L | C | R | F | M | F | V | Y | V | V | F | L | F | | | | | | | |
Mmulatta | all conserved | ENSMMUG00000000711 | 585 | L | R | D | L | C | R | F | M | F | V | Y | V | V | F | L | F | | | | | | | |
Fcatus | no homologue | | | |
Mmusculus | all conserved | ENSMUSG00000005952 | 586 | L | R | D | L | C | R | F | M | F | V | Y | L | V | F | L | | | | | | | | |
Ggallus | all conserved | ENSGALG00000004649 | 593 | L | R | D | L | C | R | F | M | F | V | Y | L | V | F | L | L | G | F | S | T | A | V | V |
Trubripes | no homologue | | | |
Drerio | all conserved | ENSDARG00000059883 | 553 | L | G | E | I | R | R | F | L | V | V | Y | M | V | F | L | I | G | F | S | A | A | L | V |
Dmelanogaster | all conserved | FBgn0036414 | 627 | M | G | D | L | L | R | F | V | S | I | Y | L | V | F | V | M | G | F | S | Q | A | F | Y |
Celegans | not conserved | B0212.5 | 545 | A | G | D | M | I | R | F | A | I | I | S | A | I | F | L | V | S | F | S | Q | V | F | Y |
Xtropicalis | all conserved | ENSXETG00000005790 | 594 | L | S | D | M | V | R | F | M | F | V | Y | L | L | F | L | F | G | F | A | A | A | L | V |
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protein features | start (aa) | end (aa) | feature | details | | 580 | 600 | TRANSMEM | Helical; (Potential). | lost | 604 | 604 | CARBOHYD | N-linked (GlcNAc...) (By similarity). | might get lost (downstream of altered splice site) | 611 | 647 | INTRAMEM | Pore-forming; (Probable). | might get lost (downstream of altered splice site) | 660 | 680 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 681 | 839 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 685 | 713 | REGION | AD (By similarity). | might get lost (downstream of altered splice site) | 705 | 705 | MOD_RES | Phosphothreonine (By similarity). | might get lost (downstream of altered splice site) | 768 | 802 | REGION | Interaction with calmodulin (By similarity). | might get lost (downstream of altered splice site) | 775 | 775 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 778 | 793 | REGION | Required for PIP2-mediated channel inhibition (By similarity). | might get lost (downstream of altered splice site) | 801 | 801 | MOD_RES | Phosphoserine; by PKC/PRKCE (By similarity). | might get lost (downstream of altered splice site) | 821 | 821 | MOD_RES | Phosphoserine (By similarity). | 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 | 2553 / 2553 |
position (AA) of stopcodon in wt / mu AA sequence | 851 / 851 |
position of stopcodon in wt / mu cDNA | 2570 / 2570 |
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 | 18 / 18 |
chromosome | 17 |
strand | -1 |
last intron/exon boundary | 2398 |
theoretical NMD boundary in CDS | 2330 |
length of CDS | 2553 |
coding sequence (CDS) position | 1786 |
cDNA position (for ins/del: last normal base / first normal base) | 1803 |
gDNA position (for ins/del: last normal base / first normal base) | 19946 |
chromosomal position (for ins/del: last normal base / first normal base) | 3480447 |
original gDNA sequence snippet | GCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTT |
altered gDNA sequence snippet | GCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTT |
original cDNA sequence snippet | GCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTT |
altered cDNA sequence snippet | GCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTT |
wildtype AA sequence | MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVI ENGPPLSFMV LAYILQREIQ EPECRHLSRK FTEWAYGPVH SSLYDLSCID TCEKNSVLEV IAYSSSETPN RHDMLLVEPL NRLLQDKWDR FVKRIFYFNF LVYCLYMIIF TMAAYYRPVD GLPPFKMEKT GDYFRVTGEI LSVLGGVYFF FRGIQYFLQR RPSMKTLFVD SYSEMLFFLQ SLFMLATVVL YFSHLKEYVA SMVFSLALGW TNMLYYTRGF QQMGIYAVMI EKMILRDLCR FMFVYIVFLF GFSTAVVTLI EDGKNDSLPS ESTSHRWRGP ACRPPDSSYN SLYSTCLELF KFTIGMGDLE FTENYDFKAV FIILLLAYVI LTYILLLNML IALMGETVNK IAQESKNIWK LQRAITILDT EKSFLKCMRK AFRSGKLLQV GYTPDGKDDY RWCFRVDEVN WTTWNTNVGI INEDPGNCEG VKRTLSFSLR SSRVSGRHWK NFALVPLLRE ASARDRQSAQ PEEVYLRQFS GSLKPEDAEV FKSPAASGEK * |
mutated AA sequence | MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVI ENGPPLSFMV LAYILQREIQ EPECRHLSRK FTEWAYGPVH SSLYDLSCID TCEKNSVLEV IAYSSSETPN RHDMLLVEPL NRLLQDKWDR FVKRIFYFNF LVYCLYMIIF TMAAYYRPVD GLPPFKMEKT GDYFRVTGEI LSVLGGVYFF FRGIQYFLQR RPSMKTLFVD SYSEMLFFLQ SLFMLATVVL YFSHLKEYVA SMVFSLALGW TNMLYYTRGF QQMGIYAVMI EKMILRDLCR FMFVYVVFLF GFSTAVVTLI EDGKNDSLPS ESTSHRWRGP ACRPPDSSYN SLYSTCLELF KFTIGMGDLE FTENYDFKAV FIILLLAYVI LTYILLLNML IALMGETVNK IAQESKNIWK LQRAITILDT EKSFLKCMRK AFRSGKLLQV GYTPDGKDDY RWCFRVDEVN WTTWNTNVGI INEDPGNCEG VKRTLSFSLR SSRVSGRHWK NFALVPLLRE ASARDRQSAQ PEEVYLRQFS GSLKPEDAEV FKSPAASGEK * |
speed | 1.26 s |
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