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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000430155
Querying Taster for transcript #2: ENST00000393469
Querying Taster for transcript #3: ENST00000469902
Querying Taster for transcript #4: ENST00000423114
Querying Taster for transcript #5: ENST00000314584
MT speed 0 s - this script 5.677917 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC12A8	polymorphism_automatic	2.53419507600938e-11	simple_aae		affected		R325Q	single base exchange	rs2981482		show file
SLC12A8	polymorphism_automatic	1.36697986263812e-10	simple_aae		affected		R465Q	single base exchange	rs2981482		show file
SLC12A8	polymorphism_automatic	1.36697986263812e-10	simple_aae		affected		R664Q	single base exchange	rs2981482		show file
SLC12A8	polymorphism_automatic	1.36697986263812e-10	simple_aae		affected		R664Q	single base exchange	rs2981482		show file
SLC12A8	polymorphism_automatic	1.36697986263812e-10	simple_aae		affected		R693Q	single base exchange	rs2981482		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999974658 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124802888C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC12A8

Ensembl transcript ID

ENST00000314584

Genbank transcript ID

N/A

UniProt peptide

A0AV02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.974G>A
cDNA.1765G>A
g.195134G>A

AA changes

R325Q Score: 43 explain score(s)

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

325

frameshift

known variant

Reference ID: rs2981482

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15946	875	16821

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.12	0.001
	0.128	0
(flanking)	0.544	0.001

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	195125	wt: 0.7882 / mu: 0.7976 (marginal change - not scored)	wt: TCTGTGTCTCTCTCACTGCAGGAGCTTGCGGTCCCCTCAGG mu: TCTGTGTCTCTCTCACTGCAGGAGCTTGCAGTCCCCTCAGG	gcag\|GAGC
Donor gained	195139	0.39	mu: AGTCCCCTCAGGAGC	TCCC\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

325

mutated

all conserved

325

Ptroglodytes

all identical

ENSPTRG00000015317

664

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035506

567

DFFL

Ggallus

all conserved

ENSGALG00000012045

590

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074384

n/a

Dmelanogaster

not conserved

FBgn0024365

663

Celegans

no alignment

F10E7.9

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
309	331	TRANSMEM	Helical; (Potential).	lost
360	377	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
383	403	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
433	433	CONFLICT	L -> P (in Ref. 6; CAG33644).	might get lost (downstream of altered splice site)
481	481	CONFLICT	E -> D (in Ref. 3; BAB15571).	might get lost (downstream of altered splice site)
512	512	CONFLICT	P -> L (in Ref. 4; CAH18426).	might get lost (downstream of altered splice site)
555	555	CONFLICT	L -> P (in Ref. 4; CAD97969).	might get lost (downstream of altered splice site)
593	616	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
622	643	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
698	698	CONFLICT	R -> H (in Ref. 2; AAO49174).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1128 / 1128

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

376 / 376

position of stopcodon in wt / mu cDNA

1919 / 1919

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

792 / 792

chromosome

strand

-1

last intron/exon boundary

1760

theoretical NMD boundary in CDS

918

length of CDS

1128

coding sequence (CDS) position

974

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

1765

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

195134

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

124802888

original gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

original cDNA sequence snippet

CAGTGGAGAAGGTGACTTGCGGTCCCCTCAGGAGCAGATCA

altered cDNA sequence snippet

CAGTGGAGAAGGTGACTTGCAGTCCCCTCAGGAGCAGATCA

wildtype AA sequence

MAGFNMGGDL REPAASIPPG SLAAVGISWF LYIIFVFLLG AICTREALRY DFLIAEKVSL
MGFLFLLGLY ISSLASCMGG LYGAPRILQC IAQEKVIPAL ACLGQGKGPN KTPVAAICLT
SLVTMAFVFV GQVNVLAPIV TINFMLTYVA VDYSYFSLSM CSCSLTPVPE PVLREGAEGL
HCSEHLLLEK APSYGSEGPA QRVLEGTLLE FTKDMDQLLQ LTRKLESSQP RQGEGNRTPE
SQKRKSKKAT KQTLQDSFLL DLKSPPSFPV EISDRLPAAS WEGQESCWNK QTSKSEGTQP
EGTYGEQLVP ELCNQSESSG EGDLRSPQEQ IILAPSLAKV DMEMTQLTQE NADFATRDRY
HHSSLVNREQ LMPHY*

mutated AA sequence

MAGFNMGGDL REPAASIPPG SLAAVGISWF LYIIFVFLLG AICTREALRY DFLIAEKVSL
MGFLFLLGLY ISSLASCMGG LYGAPRILQC IAQEKVIPAL ACLGQGKGPN KTPVAAICLT
SLVTMAFVFV GQVNVLAPIV TINFMLTYVA VDYSYFSLSM CSCSLTPVPE PVLREGAEGL
HCSEHLLLEK APSYGSEGPA QRVLEGTLLE FTKDMDQLLQ LTRKLESSQP RQGEGNRTPE
SQKRKSKKAT KQTLQDSFLL DLKSPPSFPV EISDRLPAAS WEGQESCWNK QTSKSEGTQP
EGTYGEQLVP ELCNQSESSG EGDLQSPQEQ IILAPSLAKV DMEMTQLTQE NADFATRDRY
HHSSLVNREQ LMPHY*

speed

0.37 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: 0.999999999863302 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124802888C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC12A8

Ensembl transcript ID

ENST00000430155

Genbank transcript ID

N/A

UniProt peptide

A0AV02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1394G>A
cDNA.1423G>A
g.195134G>A

AA changes

R465Q Score: 43 explain score(s)

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

465

frameshift

known variant

Reference ID: rs2981482

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15946	875	16821

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.12	0.001
	0.128	0
(flanking)	0.544	0.001

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	195125	wt: 0.7882 / mu: 0.7976 (marginal change - not scored)	wt: TCTGTGTCTCTCTCACTGCAGGAGCTTGCGGTCCCCTCAGG mu: TCTGTGTCTCTCTCACTGCAGGAGCTTGCAGTCCCCTCAGG	gcag\|GAGC
Donor gained	195139	0.39	mu: AGTCCCCTCAGGAGC	TCCC\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

465

mutated

all conserved

465

Ptroglodytes

all identical

ENSPTRG00000015317

664

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035506

655

Ggallus

not conserved

ENSGALG00000012045

680

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074384

655

Dmelanogaster

not conserved

FBgn0024365

663

Celegans

all identical

F10E7.9

560

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
481	481	CONFLICT	E -> D (in Ref. 3; BAB15571).	might get lost (downstream of altered splice site)
512	512	CONFLICT	P -> L (in Ref. 4; CAH18426).	might get lost (downstream of altered splice site)
555	555	CONFLICT	L -> P (in Ref. 4; CAD97969).	might get lost (downstream of altered splice site)
593	616	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
622	643	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
698	698	CONFLICT	R -> H (in Ref. 2; AAO49174).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1548 / 1548

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

516 / 516

position of stopcodon in wt / mu cDNA

1577 / 1577

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

30 / 30

chromosome

strand

-1

last intron/exon boundary

1415

theoretical NMD boundary in CDS

1335

length of CDS

1548

coding sequence (CDS) position

1394

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

1423

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

195134

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

124802888

original gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

original cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

wildtype AA sequence

MRRAAAGGLA VGQLPGEGPA GEEGAALGKA MRGGGCSPHS PSGCLSGVMA GFNMGGDLRE
PAASIPPGSL AAVGISWFLY IIFVFLLGAI CTREALRYDF LIAEKVSLMG FLFLLGLYIS
SLASCMGGLY GAPRILQCIA QEKVIPALAC LGQGKGPNKT PVAAICLTSL VTMAFVFVGQ
VNVLAPIVTI NFMLTYVAVD YSYFSLSMCS CSLTPVPEPV LREGAEGLHC SEHLLLEKAP
SYGSEGPAQR VLEGTLLEFT KDMDQLLQLT RKLESSQPRQ GEGNRTPESQ KRKSKKATKQ
TLQDSFLLDL KSPPSFPVEI SDRLPAASWE GQESCWNKQT SKSEGTQPEG TYGEQLVPEL
CNQSESSGED FFLKSRLQEQ DVWRRSTSFY THMCNPWVSL LGAVGSLLIM FVIQWVYTLV
NMGVAAIVYF YIGRASPGLH LGSASNFSFF RWMRSLLLPS CRSLRSPQEQ IILAPSLAKV
DMEMTQLTQE NADFATRDRY HHSSLVNREQ LMPHY*

mutated AA sequence

MRRAAAGGLA VGQLPGEGPA GEEGAALGKA MRGGGCSPHS PSGCLSGVMA GFNMGGDLRE
PAASIPPGSL AAVGISWFLY IIFVFLLGAI CTREALRYDF LIAEKVSLMG FLFLLGLYIS
SLASCMGGLY GAPRILQCIA QEKVIPALAC LGQGKGPNKT PVAAICLTSL VTMAFVFVGQ
VNVLAPIVTI NFMLTYVAVD YSYFSLSMCS CSLTPVPEPV LREGAEGLHC SEHLLLEKAP
SYGSEGPAQR VLEGTLLEFT KDMDQLLQLT RKLESSQPRQ GEGNRTPESQ KRKSKKATKQ
TLQDSFLLDL KSPPSFPVEI SDRLPAASWE GQESCWNKQT SKSEGTQPEG TYGEQLVPEL
CNQSESSGED FFLKSRLQEQ DVWRRSTSFY THMCNPWVSL LGAVGSLLIM FVIQWVYTLV
NMGVAAIVYF YIGRASPGLH LGSASNFSFF RWMRSLLLPS CRSLQSPQEQ IILAPSLAKV
DMEMTQLTQE NADFATRDRY HHSSLVNREQ LMPHY*

speed

1.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999863302 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124802888C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC12A8

Ensembl transcript ID

ENST00000393469

Genbank transcript ID

NM_001195483

UniProt peptide

A0AV02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1991G>A
cDNA.2041G>A
g.195134G>A

AA changes

R664Q Score: 43 explain score(s)

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

664

frameshift

known variant

Reference ID: rs2981482

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15946	875	16821

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.12	0.001
	0.128	0
(flanking)	0.544	0.001

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	195125	wt: 0.7882 / mu: 0.7976 (marginal change - not scored)	wt: TCTGTGTCTCTCTCACTGCAGGAGCTTGCGGTCCCCTCAGG mu: TCTGTGTCTCTCTCACTGCAGGAGCTTGCAGTCCCCTCAGG	gcag\|GAGC
Donor gained	195139	0.39	mu: AGTCCCCTCAGGAGC	TCCC\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

664

mutated

all conserved

664

Ptroglodytes

all identical

ENSPTRG00000015317

664

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035506

655

Ggallus

not conserved

ENSGALG00000012045

680

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074384

655

Dmelanogaster

not conserved

FBgn0024365

663

Celegans

all identical

F10E7.9

560

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
698	698	CONFLICT	R -> H (in Ref. 2; AAO49174).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2145 / 2145

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

715 / 715

position of stopcodon in wt / mu cDNA

2195 / 2195

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

51 / 51

chromosome

strand

-1

last intron/exon boundary

2033

theoretical NMD boundary in CDS

1932

length of CDS

2145

coding sequence (CDS) position

1991

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

2041

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

195134

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

124802888

original gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

original cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

wildtype AA sequence

MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL
RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG
TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII
RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF
FPAATGVMAG FNMGGDLREP AASIPPGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP
VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL
REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG
EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS
KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC
RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHY*

mutated AA sequence

MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL
RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG
TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII
RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF
FPAATGVMAG FNMGGDLREP AASIPPGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP
VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL
REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG
EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS
KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC
RSLQSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHY*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999863302 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124802888C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC12A8

Ensembl transcript ID

ENST00000469902

Genbank transcript ID

N/A

UniProt peptide

A0AV02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1991G>A
cDNA.2102G>A
g.195134G>A

AA changes

R664Q Score: 43 explain score(s)

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

664

frameshift

known variant

Reference ID: rs2981482

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15946	875	16821

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.12	0.001
	0.128	0
(flanking)	0.544	0.001

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	195125	wt: 0.7882 / mu: 0.7976 (marginal change - not scored)	wt: TCTGTGTCTCTCTCACTGCAGGAGCTTGCGGTCCCCTCAGG mu: TCTGTGTCTCTCTCACTGCAGGAGCTTGCAGTCCCCTCAGG	gcag\|GAGC
Donor gained	195139	0.39	mu: AGTCCCCTCAGGAGC	TCCC\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

664

mutated

all conserved

664

Ptroglodytes

all identical

ENSPTRG00000015317

664

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035506

655

Ggallus

not conserved

ENSGALG00000012045

680

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074384

655

Dmelanogaster

not conserved

FBgn0024365

663

Celegans

all identical

F10E7.9

560

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
698	698	CONFLICT	R -> H (in Ref. 2; AAO49174).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2145 / 2145

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

715 / 715

position of stopcodon in wt / mu cDNA

2256 / 2256

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

2094

theoretical NMD boundary in CDS

1932

length of CDS

2145

coding sequence (CDS) position

1991

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

2102

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

195134

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

124802888

original gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

original cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

wildtype AA sequence

mutated AA sequence

MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL
RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG
TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII
RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF
FPAATGVMAG FNMGGDLREP AASIPPGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP
VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL
REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG
EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS
KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC
RSLQSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHY*

speed

1.15 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999863302 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124802888C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC12A8

Ensembl transcript ID

ENST00000423114

Genbank transcript ID

N/A

UniProt peptide

A0AV02

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2078G>A
cDNA.2078G>A
g.195134G>A

AA changes

R693Q Score: 43 explain score(s)

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

693

frameshift

known variant

Reference ID: rs2981482

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15946	875	16821

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.12	0.001
	0.128	0
(flanking)	0.544	0.001

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	195125	wt: 0.7882 / mu: 0.7976 (marginal change - not scored)	wt: TCTGTGTCTCTCTCACTGCAGGAGCTTGCGGTCCCCTCAGG mu: TCTGTGTCTCTCTCACTGCAGGAGCTTGCAGTCCCCTCAGG	gcag\|GAGC
Donor gained	195139	0.39	mu: AGTCCCCTCAGGAGC	TCCC\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

all conserved

693

Ptroglodytes

all identical

ENSPTRG00000015317

664

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035506

655

Ggallus

not conserved

ENSGALG00000012045

679

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074384

655

Dmelanogaster

not conserved

FBgn0024365

663

Celegans

all identical

F10E7.9

560

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
698	698	CONFLICT	R -> H (in Ref. 2; AAO49174).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2232 / 2232

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

744 / 744

position of stopcodon in wt / mu cDNA

2232 / 2232

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

2070

theoretical NMD boundary in CDS

2019

length of CDS

2232

coding sequence (CDS) position

2078

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

2078

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

195134

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

124802888

original gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered gDNA sequence snippet

CTCTCACTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

original cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCGGTCCCCTCAGGAGCAGATCA

altered cDNA sequence snippet

CCCCTCCTGCAGGAGCTTGCAGTCCCCTCAGGAGCAGATCA

wildtype AA sequence

MLPLERTITY RDMSSFIQVK NHFNVVNVTC VSYRSTCFRD MRRFILDALA QPQPWWKTQL
FMWEPVLFGT WDGVFTSCMI NIFGVVLFLR TGWLVGNTGV LLGMFLVSFV ILVALVTVLS
GIGVGERSSI GSGGVYSMIS SVLGGQTGGT IGLLYVFGQC VAGAMYITGF AESISDLLGL
GNIWAVRGIS VAVLLALLGI NLAGVKWIIR LQLLLLFLLA VSTLDFVVGS FTHLDPEHGF
IGYSPELLQN NTLPDYSPGE SFFTVFGVFF PAATGVMAGF NMGGDLREPA ASIPPGSLAA
VGISWFLYII FVFLLGAICT REALRYDFLI AEKVSLMGFL FLLGLYISSL ASCMGGLYGA
PRILQCIAQE KVIPALACLG QGKGPNKTPV AAICLTSLVT MAFVFVGQVN VLAPIVTINF
MLTYVAVDYS YFSLSMCSCS LTPVPEPVLR EGAEGLHCSE HLLLEKAPSY GSEGPAQRVL
EGTLLEFTKD MDQLLQLTRK LESSQPRQGE GNRTPESQKR KSKKATKQTL QDSFLLDLKS
PPSFPVEISD RLPAASWEGQ ESCWNKQTSK SEGTQPEGTY GEQLVPELCN QSESSGEDFF
LKSRLQEQDV WRRSTSFYTH MCNPWVSLLG AVGSLLIMFV IQWVYTLVNM GVAAIVYFYI
GRASPGLHLG SASNFSFFRW MRSLLLPSCR SLRSPQEQII LAPSLAKVDM EMTQLTQENA
DFATRDRYHH SSLVNREQLM PHY*

mutated AA sequence

MLPLERTITY RDMSSFIQVK NHFNVVNVTC VSYRSTCFRD MRRFILDALA QPQPWWKTQL
FMWEPVLFGT WDGVFTSCMI NIFGVVLFLR TGWLVGNTGV LLGMFLVSFV ILVALVTVLS
GIGVGERSSI GSGGVYSMIS SVLGGQTGGT IGLLYVFGQC VAGAMYITGF AESISDLLGL
GNIWAVRGIS VAVLLALLGI NLAGVKWIIR LQLLLLFLLA VSTLDFVVGS FTHLDPEHGF
IGYSPELLQN NTLPDYSPGE SFFTVFGVFF PAATGVMAGF NMGGDLREPA ASIPPGSLAA
VGISWFLYII FVFLLGAICT REALRYDFLI AEKVSLMGFL FLLGLYISSL ASCMGGLYGA
PRILQCIAQE KVIPALACLG QGKGPNKTPV AAICLTSLVT MAFVFVGQVN VLAPIVTINF
MLTYVAVDYS YFSLSMCSCS LTPVPEPVLR EGAEGLHCSE HLLLEKAPSY GSEGPAQRVL
EGTLLEFTKD MDQLLQLTRK LESSQPRQGE GNRTPESQKR KSKKATKQTL QDSFLLDLKS
PPSFPVEISD RLPAASWEGQ ESCWNKQTSK SEGTQPEGTY GEQLVPELCN QSESSGEDFF
LKSRLQEQDV WRRSTSFYTH MCNPWVSLLG AVGSLLIMFV IQWVYTLVNM GVAAIVYFYI
GRASPGLHLG SASNFSFFRW MRSLLLPSCR SLQSPQEQII LAPSLAKVDM EMTQLTQENA
DFATRDRYHH SSLVNREQLM PHY*

speed

1.20 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems