MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000572705
Querying Taster for transcript #2: ENST00000399759
Querying Taster for transcript #3: ENST00000571088
Querying Taster for transcript #4: ENST00000399756
Querying Taster for transcript #5: ENST00000425167
Querying Taster for transcript #6: ENST00000576351
Querying Taster for transcript #7: ENST00000310522
Querying Taster for transcript #8: ENST00000174621
MT speed 0 s - this script 6.611197 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TRPV1	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		I575V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I585V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I585V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I585V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I596V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I583V	single base exchange	rs8065080		show file
TRPV1	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		I525V	single base exchange	rs8065080		show file

Taster files

mutation t@sting

documentation

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 CM105494)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000576351

Genbank transcript ID

N/A

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1723A>G
cDNA.1756A>G
g.19946A>G

AA changes

I575V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

575

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

575

mutated

all conserved

575

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

protein features

start (aa)	end (aa)	feature	details
557	579	TOPO_DOM	Cytoplasmic (Potential).	lost
580	600	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2490 / 2490

position (AA) of stopcodon in wt / mu AA sequence

830 / 830

position of stopcodon in wt / mu cDNA

2523 / 2523

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

34 / 34

chromosome

strand

-1

last intron/exon boundary

2351

theoretical NMD boundary in CDS

2267

length of CDS

2490

coding sequence (CDS) position

1723

cDNA position
(for ins/del: last normal base / first normal base)

1756

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLENR HDMLLVEPLN RLLQDKWDRF
VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL SVLGGVYFFF
RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS MVFSLALGWT
NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE DGKNDSLPSE
STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF IILLLAYVIL
TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA FRSGKLLQVG
YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS SRVSGRHWKN
FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLENR HDMLLVEPLN RLLQDKWDRF
VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL SVLGGVYFFF
RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS MVFSLALGWT
NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYVVFLFG FSTAVVTLIE DGKNDSLPSE
STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF IILLLAYVIL
TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA FRSGKLLQVG
YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS SRVSGRHWKN
FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

speed

1.23 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000399759

Genbank transcript ID

NM_080705

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1753A>G
cDNA.1954A>G
g.19946A>G

AA changes

I585V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

585

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

585

mutated

all conserved

585

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2520 / 2520

position (AA) of stopcodon in wt / mu AA sequence

840 / 840

position of stopcodon in wt / mu cDNA

2721 / 2721

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

202 / 202

chromosome

strand

-1

last intron/exon boundary

2549

theoretical NMD boundary in CDS

2297

length of CDS

2520

coding sequence (CDS) position

1753

cDNA position
(for ins/del: last normal base / first normal base)

1954

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYVVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

speed

1.00 s

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000571088

Genbank transcript ID

NM_018727

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1753A>G
cDNA.1967A>G
g.19946A>G

AA changes

I585V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

585

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

585

mutated

all conserved

585

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2520 / 2520

position (AA) of stopcodon in wt / mu AA sequence

840 / 840

position of stopcodon in wt / mu cDNA

2734 / 2734

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

215 / 215

chromosome

strand

-1

last intron/exon boundary

2562

theoretical NMD boundary in CDS

2297

length of CDS

2520

coding sequence (CDS) position

1753

cDNA position
(for ins/del: last normal base / first normal base)

1967

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYVVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

speed

1.11 s

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000399756

Genbank transcript ID

NM_080706

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1753A>G
cDNA.2280A>G
g.19946A>G

AA changes

I585V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

585

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

585

mutated

all conserved

585

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2520 / 2520

position (AA) of stopcodon in wt / mu AA sequence

840 / 840

position of stopcodon in wt / mu cDNA

3047 / 3047

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

528 / 528

chromosome

strand

-1

last intron/exon boundary

2875

theoretical NMD boundary in CDS

2297

length of CDS

2520

coding sequence (CDS) position

1753

cDNA position
(for ins/del: last normal base / first normal base)

2280

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

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 AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYVVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

speed

1.26 s

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

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

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

596

mutated

all conserved

596

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

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)

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

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

1.10 s

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000174621

Genbank transcript ID

N/A

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1747A>G
cDNA.2037A>G
g.19946A>G

AA changes

I583V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

583

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

583

mutated

all conserved

583

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

545

Xtropicalis

all conserved

ENSXETG00000005790

594

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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2514 / 2514

position (AA) of stopcodon in wt / mu AA sequence

838 / 838

position of stopcodon in wt / mu cDNA

2804 / 2804

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

291 / 291

chromosome

strand

-1

last intron/exon boundary

2632

theoretical NMD boundary in CDS

2291

length of CDS

2514

coding sequence (CDS) position

1747

cDNA position
(for ins/del: last normal base / first normal base)

2037

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

METLTPGHLQ PSPSSPRPRA APGSLGRVTR RRLSRWIALT RKVSWTPARP SQSALLSPSR
GQETAPPVPG CCPRTLSPPA PRRPSGSMIA GVSLKPLLRI TARIWRACCS SCRRARSTSQ
TTSSKVAPAL GSGRAPALAC PDPPLCLSDP ETGKTCLLKA MLNLHDGQNT TIPLLLEIAR
QTDSLKELVN ASYTDSYYKG QTALHIAIER RNMALVTLLV ENGADVQAAA HGDFFKKTKG
RPGFYFGELP LSLAACTNQL GIVKFLLQNS WQTADISARD SVGNTVLHAL VEVADNTADN
TKFVTSMYNE ILMLGAKLHP TLKLEELTNK KGMTPLALAA GTGKIGVLAY ILQREIQEPE
CRHLSRKFTE WAYGPVHSSL YDLSCIDTCE KNSVLEVIAY SSSETPNRHD MLLVEPLNRL
LQDKWDRFVK RIFYFNFLVY CLYMIIFTMA AYYRPVDGLP PFKMEKTGDY FRVTGEILSV
LGGVYFFFRG IQYFLQRRPS MKTLFVDSYS EMLFFLQSLF MLATVVLYFS HLKEYVASMV
FSLALGWTNM LYYTRGFQQM GIYAVMIEKM ILRDLCRFMF VYIVFLFGFS TAVVTLIEDG
KNDSLPSEST SHRWRGPACR PPDSSYNSLY STCLELFKFT IGMGDLEFTE NYDFKAVFII
LLLAYVILTY ILLLNMLIAL MGETVNKIAQ ESKNIWKLQR AITILDTEKS FLKCMRKAFR
SGKLLQVGYT PDGKDDYRWC FRVDEVNWTT WNTNVGIINE DPGNCEGVKR TLSFSLRSSR
VSGRHWKNFA LVPLLREASA RDRQSAQPEE VYLRQFSGSL KPEDAEVFKS PAASGEK*

mutated AA sequence

METLTPGHLQ PSPSSPRPRA APGSLGRVTR RRLSRWIALT RKVSWTPARP SQSALLSPSR
GQETAPPVPG CCPRTLSPPA PRRPSGSMIA GVSLKPLLRI TARIWRACCS SCRRARSTSQ
TTSSKVAPAL GSGRAPALAC PDPPLCLSDP ETGKTCLLKA MLNLHDGQNT TIPLLLEIAR
QTDSLKELVN ASYTDSYYKG QTALHIAIER RNMALVTLLV ENGADVQAAA HGDFFKKTKG
RPGFYFGELP LSLAACTNQL GIVKFLLQNS WQTADISARD SVGNTVLHAL VEVADNTADN
TKFVTSMYNE ILMLGAKLHP TLKLEELTNK KGMTPLALAA GTGKIGVLAY ILQREIQEPE
CRHLSRKFTE WAYGPVHSSL YDLSCIDTCE KNSVLEVIAY SSSETPNRHD MLLVEPLNRL
LQDKWDRFVK RIFYFNFLVY CLYMIIFTMA AYYRPVDGLP PFKMEKTGDY FRVTGEILSV
LGGVYFFFRG IQYFLQRRPS MKTLFVDSYS EMLFFLQSLF MLATVVLYFS HLKEYVASMV
FSLALGWTNM LYYTRGFQQM GIYAVMIEKM ILRDLCRFMF VYVVFLFGFS TAVVTLIEDG
KNDSLPSEST SHRWRGPACR PPDSSYNSLY STCLELFKFT IGMGDLEFTE NYDFKAVFII
LLLAYVILTY ILLLNMLIAL MGETVNKIAQ ESKNIWKLQR AITILDTEKS FLKCMRKAFR
SGKLLQVGYT PDGKDDYRWC FRVDEVNWTT WNTNVGIINE DPGNCEGVKR TLSFSLRSSR
VSGRHWKNFA LVPLLREASA RDRQSAQPEE VYLRQFSGSL KPEDAEVFKS PAASGEK*

speed

1.01 s

mutation t@sting

documentation

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3480447T>CN/A show variant in all transcripts IGV

HGNC symbol

TRPV1

Ensembl transcript ID

ENST00000310522

Genbank transcript ID

N/A

UniProt peptide

Q8NER1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1573A>G
cDNA.1573A>G
g.19946A>G

AA changes

I525V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

525

frameshift

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)

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	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	19957	wt: 0.9091 / mu: 0.9162 (marginal change - not scored)	wt: TTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTAA mu: TTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTAA	cttg\|TTCG
Acc marginally increased	19950	wt: 0.2244 / mu: 0.2269 (marginal change - not scored)	wt: TTTCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCA mu: TTTCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCA	tcgt\|CTTC
Acc marginally increased	19956	wt: 0.9796 / mu: 0.9823 (marginal change - not scored)	wt: GTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGTA mu: GTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGTA	tctt\|GTTC
Acc marginally increased	19941	wt: 0.2636 / mu: 0.2878 (marginal change - not scored)	wt: CCTGTGCCGTTTCATGTTTGTCTACATCGTCTTCTTGTTCG mu: CCTGTGCCGTTTCATGTTTGTCTACGTCGTCTTCTTGTTCG	ttgt\|CTAC
Acc marginally increased	19952	wt: 0.3835 / mu: 0.3941 (marginal change - not scored)	wt: TCATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACA mu: TCATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACA	gtct\|TCTT
Acc increased	19955	wt: 0.74 / mu: 0.87	wt: TGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAGGT mu: TGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAGGT	ttct\|TGTT
Acc increased	19953	wt: 0.22 / mu: 0.36	wt: CATGTTTGTCTACATCGTCTTCTTGTTCGGGTTTTCCACAG mu: CATGTTTGTCTACGTCGTCTTCTTGTTCGGGTTTTCCACAG	tctt\|CTTG
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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

525

mutated

all conserved

525

Ptroglodytes

all conserved

ENSPTRG00000024045

532

Mmulatta

all conserved

ENSMMUG00000000711

585

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000005952

586

Ggallus

all conserved

ENSGALG00000004649

593

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000059883

553

Dmelanogaster

all conserved

FBgn0036414

627

Celegans

not conserved

B0212.5

544

Xtropicalis

all conserved

ENSXETG00000005790

594

protein features

start (aa)	end (aa)	feature	details
514	534	TRANSMEM	Helical; (Potential).	lost
535	535	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
536	556	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
550	550	MUTAGEN	T->I: Reduces sensitivity to capsaicin 40-fold.	might get lost (downstream of altered splice site)
557	579	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
580	600	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
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)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2340 / 2340

position (AA) of stopcodon in wt / mu AA sequence

780 / 780

position of stopcodon in wt / mu cDNA

2340 / 2340

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2168

theoretical NMD boundary in CDS

2117

length of CDS

2340

coding sequence (CDS) position

1573

cDNA position
(for ins/del: last normal base / first normal base)

1573

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 AAGTGKIGNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

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 AAGTGKIGNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYVVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*

speed

1.01 s

Problems

data problem

No NCBI gene ID found for this transcript

back to results table