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: ENST00000225308
Querying Taster for transcript #2: ENST00000377095
Querying Taster for transcript #3: ENST00000590194
Querying Taster for transcript #4: ENST00000586016
Querying Taster for transcript #5: ENST00000537904
MT speed 0 s - this script 5.524343 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC25A39	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		F247L	single base exchange	rs2011951		show file
SLC25A39	polymorphism_automatic	4.9960036108132e-15	simple_aae		affected		F239L	single base exchange	rs2011951		show file
SLC25A39	polymorphism_automatic	4.9960036108132e-15	simple_aae		affected		F239L	single base exchange	rs2011951		show file
SLC25A39	polymorphism_automatic	4.9960036108132e-15	simple_aae		affected		F115L	single base exchange	rs2011951		show file
SLC25A39	polymorphism_automatic	1.19904086659517e-14	simple_aae		affected		F224L	single base exchange	rs2011951		show file

Taster files

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
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:42398052A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC25A39

Ensembl transcript ID

ENST00000377095

Genbank transcript ID

NM_001143780

UniProt peptide

Q9BZJ4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.739T>C
cDNA.859T>C
g.4187T>C

AA changes

F247L Score: 22 explain score(s)

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

247

frameshift

known variant

Reference ID: rs2011951

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1246	919	2165
ExAC	18508	-4249	14259

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.304	0
	-0.14	0
(flanking)	-0.022	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	4192	wt: 0.9768 / mu: 0.9780 (marginal change - not scored)	wt: TTCAGGCCGAAGGAC mu: CTCAGGCCGAAGGAC	CAGG\|ccga
Donor increased	4185	wt: 0.32 / mu: 0.36	wt: CAATGGGTTCAGGCC mu: CAATGGGCTCAGGCC	ATGG\|gttc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

247

mutated

not conserved

247

Ptroglodytes

not conserved

ENSPTRG00000009272

247

Mmulatta

not conserved

ENSMMUG00000017944

247

Fcatus

not conserved

ENSFCAG00000003053

247

Mmusculus

not conserved

ENSMUSG00000018677

247

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000000159

246

Drerio

not conserved

ENSDARG00000007449

245

Dmelanogaster

not conserved

FBgn0031039

267

Celegans

not conserved

C16C10.1

260

Xtropicalis

not conserved

ENSXETG00000011613

251

protein features

start (aa)	end (aa)	feature	details
253	347	REPEAT	Solcar 3.	might get lost (downstream of altered splice site)
259	279	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
266	266	CONFLICT	G -> R (in Ref. 7; AAF69618).	might get lost (downstream of altered splice site)
318	338	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1080 / 1080

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

360 / 360

position of stopcodon in wt / mu cDNA

1200 / 1200

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

121 / 121

chromosome

strand

-1

last intron/exon boundary

1085

theoretical NMD boundary in CDS

914

length of CDS

1080

coding sequence (CDS) position

739

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

859

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

4187

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

42398052

original gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

original cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

wildtype AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS
YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD PTRFTGTMDA FVKIVRHEGT
RTLWSGLPAT LVMTVPATAI YFTAYDQLKA FLCGRALTSD LYAPMVAGAL ARLGTVTVIS
PLELMRTKLQ AQHVSYRELG ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV
KSWLNGFRPK DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV
DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR LNQDRLLGG*

mutated AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS
YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD PTRFTGTMDA FVKIVRHEGT
RTLWSGLPAT LVMTVPATAI YFTAYDQLKA FLCGRALTSD LYAPMVAGAL ARLGTVTVIS
PLELMRTKLQ AQHVSYRELG ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV
KSWLNGLRPK DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV
DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR LNQDRLLGG*

speed

1.03 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: 0.999999999999995 (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)

chr17:42398052A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC25A39

Ensembl transcript ID

ENST00000225308

Genbank transcript ID

NM_016016

UniProt peptide

Q9BZJ4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.715T>C
cDNA.890T>C
g.4187T>C

AA changes

F239L Score: 22 explain score(s)

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

239

frameshift

known variant

Reference ID: rs2011951

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1246	919	2165
ExAC	18508	-4249	14259

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.304	0
	-0.14	0
(flanking)	-0.022	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	4192	wt: 0.9768 / mu: 0.9780 (marginal change - not scored)	wt: TTCAGGCCGAAGGAC mu: CTCAGGCCGAAGGAC	CAGG\|ccga
Donor increased	4185	wt: 0.32 / mu: 0.36	wt: CAATGGGTTCAGGCC mu: CAATGGGCTCAGGCC	ATGG\|gttc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

239

mutated

not conserved

239

Ptroglodytes

not conserved

ENSPTRG00000009272

247

Mmulatta

not conserved

ENSMMUG00000017944

247

Fcatus

not conserved

ENSFCAG00000003053

247

Mmusculus

not conserved

ENSMUSG00000018677

247

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000000159

246

Drerio

not conserved

ENSDARG00000007449

245

Dmelanogaster

not conserved

FBgn0031039

267

Celegans

not conserved

C16C10.1

260

Xtropicalis

not conserved

ENSXETG00000011613

251

protein features

start (aa)	end (aa)	feature	details
159	243	REPEAT	Solcar 2.	lost
253	347	REPEAT	Solcar 3.	might get lost (downstream of altered splice site)
259	279	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
266	266	CONFLICT	G -> R (in Ref. 7; AAF69618).	might get lost (downstream of altered splice site)
318	338	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1056 / 1056

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

352 / 352

position of stopcodon in wt / mu cDNA

1231 / 1231

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

1116

theoretical NMD boundary in CDS

890

length of CDS

1056

coding sequence (CDS) position

715

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

890

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

4187

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

42398052

original gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

original cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

wildtype AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS
YTKWKCLLYC NGVLEPLYLC PNGARCATWF QDPTRFTGTM DAFVKIVRHE GTRTLWSGLP
ATLVMTVPAT AIYFTAYDQL KAFLCGRALT SDLYAPMVAG ALARLGTVTV ISPLELMRTK
LQAQHVSYRE LGACVRTAVA QGGWRSLWLG WGPTALRDVP FSALYWFNYE LVKSWLNGFR
PKDQTSVGMS FVAGGISGTV AAVLTLPFDV VKTQRQVALG AMEAVRVNPL HVDSTWLLLR
RIRAESGTKG LFAGFLPRII KAAPSCAIMI STYEFGKSFF QRLNQDRLLG G*

mutated AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS
YTKWKCLLYC NGVLEPLYLC PNGARCATWF QDPTRFTGTM DAFVKIVRHE GTRTLWSGLP
ATLVMTVPAT AIYFTAYDQL KAFLCGRALT SDLYAPMVAG ALARLGTVTV ISPLELMRTK
LQAQHVSYRE LGACVRTAVA QGGWRSLWLG WGPTALRDVP FSALYWFNYE LVKSWLNGLR
PKDQTSVGMS FVAGGISGTV AAVLTLPFDV VKTQRQVALG AMEAVRVNPL HVDSTWLLLR
RIRAESGTKG LFAGFLPRII KAAPSCAIMI STYEFGKSFF QRLNQDRLLG G*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr17:42398052A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC25A39

Ensembl transcript ID

ENST00000590194

Genbank transcript ID

N/A

UniProt peptide

Q9BZJ4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.715T>C
cDNA.842T>C
g.4187T>C

AA changes

F239L Score: 22 explain score(s)

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

239

frameshift

known variant

Reference ID: rs2011951

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1246	919	2165
ExAC	18508	-4249	14259

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.304	0
	-0.14	0
(flanking)	-0.022	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	4192	wt: 0.9768 / mu: 0.9780 (marginal change - not scored)	wt: TTCAGGCCGAAGGAC mu: CTCAGGCCGAAGGAC	CAGG\|ccga
Donor increased	4185	wt: 0.32 / mu: 0.36	wt: CAATGGGTTCAGGCC mu: CAATGGGCTCAGGCC	ATGG\|gttc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

239

mutated

not conserved

239

Ptroglodytes

not conserved

ENSPTRG00000009272

247

Mmulatta

not conserved

ENSMMUG00000017944

247

Fcatus

not conserved

ENSFCAG00000003053

247

Mmusculus

not conserved

ENSMUSG00000018677

247

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000000159

246

Drerio

not conserved

ENSDARG00000007449

245

Dmelanogaster

not conserved

FBgn0031039

267

Celegans

not conserved

C16C10.1

260

Xtropicalis

not conserved

ENSXETG00000011613

251

protein features

start (aa)	end (aa)	feature	details
159	243	REPEAT	Solcar 2.	lost
253	347	REPEAT	Solcar 3.	might get lost (downstream of altered splice site)
259	279	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
266	266	CONFLICT	G -> R (in Ref. 7; AAF69618).	might get lost (downstream of altered splice site)
318	338	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1056 / 1056

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

352 / 352

position of stopcodon in wt / mu cDNA

1183 / 1183

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

128 / 128

chromosome

strand

-1

last intron/exon boundary

1068

theoretical NMD boundary in CDS

890

length of CDS

1056

coding sequence (CDS) position

715

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

842

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

4187

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

42398052

original gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

original cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

wildtype AA sequence

mutated AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS
YTKWKCLLYC NGVLEPLYLC PNGARCATWF QDPTRFTGTM DAFVKIVRHE GTRTLWSGLP
ATLVMTVPAT AIYFTAYDQL KAFLCGRALT SDLYAPMVAG ALARLGTVTV ISPLELMRTK
LQAQHVSYRE LGACVRTAVA QGGWRSLWLG WGPTALRDVP FSALYWFNYE LVKSWLNGLR
PKDQTSVGMS FVAGGISGTV AAVLTLPFDV VKTQRQVALG AMEAVRVNPL HVDSTWLLLR
RIRAESGTKG LFAGFLPRII KAAPSCAIMI STYEFGKSFF QRLNQDRLLG G*

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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)

chr17:42398052A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC25A39

Ensembl transcript ID

ENST00000586016

Genbank transcript ID

N/A

UniProt peptide

Q9BZJ4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.343T>C
cDNA.487T>C
g.4187T>C

AA changes

F115L Score: 22 explain score(s)

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

115

frameshift

known variant

Reference ID: rs2011951

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1246	919	2165
ExAC	18508	-4249	14259

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.304	0
	-0.14	0
(flanking)	-0.022	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	4192	wt: 0.9768 / mu: 0.9780 (marginal change - not scored)	wt: TTCAGGCCGAAGGAC mu: CTCAGGCCGAAGGAC	CAGG\|ccga
Donor increased	4185	wt: 0.32 / mu: 0.36	wt: CAATGGGTTCAGGCC mu: CAATGGGCTCAGGCC	ATGG\|gttc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

115

mutated

not conserved

115

Ptroglodytes

not conserved

ENSPTRG00000009272

247

Mmulatta

not conserved

ENSMMUG00000017944

247

Fcatus

not conserved

ENSFCAG00000003053

247

Mmusculus

not conserved

ENSMUSG00000018677

247

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000000159

246

Drerio

not conserved

ENSDARG00000007449

245

Dmelanogaster

not conserved

FBgn0031039

267

Celegans

not conserved

C16C10.1

260

Xtropicalis

not conserved

ENSXETG00000011613

251

protein features

start (aa)	end (aa)	feature	details
9	151	REPEAT	Solcar 1.	lost
122	142	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
159	243	REPEAT	Solcar 2.	might get lost (downstream of altered splice site)
161	181	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
215	235	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
253	347	REPEAT	Solcar 3.	might get lost (downstream of altered splice site)
259	279	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
266	266	CONFLICT	G -> R (in Ref. 7; AAF69618).	might get lost (downstream of altered splice site)
318	338	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

684 / 684

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

228 / 228

position of stopcodon in wt / mu cDNA

828 / 828

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

145 / 145

chromosome

strand

-1

last intron/exon boundary

713

theoretical NMD boundary in CDS

518

length of CDS

684

coding sequence (CDS) position

343

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

487

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

4187

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

42398052

original gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

original cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

wildtype AA sequence

MTVPATAIYF TAYDQLKAFL CGRALTSDLY APMVAGALAR LGTVTVISPL ELMRTKLQAQ
HVSYRELGAC VRTAVAQGGW RSLWLGWGPT ALRDVPFSAL YWFNYELVKS WLNGFRPKDQ
TSVGMSFVAG GISGTVAAVL TLPFDVVKTQ RQVALGAMEA VRVNPLHVDS TWLLLRRIRA
ESGTKGLFAG FLPRIIKAAP SCAIMISTYE FGKSFFQRLN QDRLLGG*

mutated AA sequence

MTVPATAIYF TAYDQLKAFL CGRALTSDLY APMVAGALAR LGTVTVISPL ELMRTKLQAQ
HVSYRELGAC VRTAVAQGGW RSLWLGWGPT ALRDVPFSAL YWFNYELVKS WLNGLRPKDQ
TSVGMSFVAG GISGTVAAVL TLPFDVVKTQ RQVALGAMEA VRVNPLHVDS TWLLLRRIRA
ESGTKGLFAG FLPRIIKAAP SCAIMISTYE FGKSFFQRLN QDRLLGG*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr17:42398052A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC25A39

Ensembl transcript ID

ENST00000537904

Genbank transcript ID

N/A

UniProt peptide

Q9BZJ4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.670T>C
cDNA.802T>C
g.4187T>C

AA changes

F224L Score: 22 explain score(s)

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

224

frameshift

known variant

Reference ID: rs2011951

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1246	919	2165
ExAC	18508	-4249	14259

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.304	0
	-0.14	0
(flanking)	-0.022	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	4192	wt: 0.9768 / mu: 0.9780 (marginal change - not scored)	wt: TTCAGGCCGAAGGAC mu: CTCAGGCCGAAGGAC	CAGG\|ccga
Donor increased	4185	wt: 0.32 / mu: 0.36	wt: CAATGGGTTCAGGCC mu: CAATGGGCTCAGGCC	ATGG\|gttc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

224

mutated

not conserved

224

Ptroglodytes

not conserved

ENSPTRG00000009272

247

Mmulatta

not conserved

ENSMMUG00000017944

247

Fcatus

not conserved

ENSFCAG00000003053

247

Mmusculus

not conserved

ENSMUSG00000018677

247

Ggallus

no homologue

Trubripes

all conserved

ENSTRUG00000000159

246

Drerio

not conserved

ENSDARG00000007449

245

Dmelanogaster

not conserved

FBgn0031039

267

Celegans

not conserved

C16C10.1

260

Xtropicalis

not conserved

ENSXETG00000011613

251

protein features

start (aa)	end (aa)	feature	details
159	243	REPEAT	Solcar 2.	lost
215	235	TRANSMEM	Helical; Name=4; (Potential).	lost
253	347	REPEAT	Solcar 3.	might get lost (downstream of altered splice site)
259	279	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
266	266	CONFLICT	G -> R (in Ref. 7; AAF69618).	might get lost (downstream of altered splice site)
318	338	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1011 / 1011

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

337 / 337

position of stopcodon in wt / mu cDNA

1143 / 1143

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

133 / 133

chromosome

strand

-1

last intron/exon boundary

1028

theoretical NMD boundary in CDS

845

length of CDS

1011

coding sequence (CDS) position

670

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

802

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

4187

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

42398052

original gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered gDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

original cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGTTCAGGCCGAAGGACCAGACT

altered cDNA sequence snippet

TGAAGAGCTGGCTCAATGGGCTCAGGCCGAAGGACCAGACT

wildtype AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASGK CLLYCNGVLE
PLYLCPNGAR CATWFQDPTR FTGTMDAFVK IVRHEGTRTL WSGLPATLVM TVPATAIYFT
AYDQLKAFLC GRALTSDLYA PMVAGALARL GTVTVISPLE LMRTKLQAQH VSYRELGACV
RTAVAQGGWR SLWLGWGPTA LRDVPFSALY WFNYELVKSW LNGFRPKDQT SVGMSFVAGG
ISGTVAAVLT LPFDVVKTQR QVALGAMEAV RVNPLHVDST WLLLRRIRAE SGTKGLFAGF
LPRIIKAAPS CAIMISTYEF GKSFFQRLNQ DRLLGG*

mutated AA sequence

MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASGK CLLYCNGVLE
PLYLCPNGAR CATWFQDPTR FTGTMDAFVK IVRHEGTRTL WSGLPATLVM TVPATAIYFT
AYDQLKAFLC GRALTSDLYA PMVAGALARL GTVTVISPLE LMRTKLQAQH VSYRELGACV
RTAVAQGGWR SLWLGWGPTA LRDVPFSALY WFNYELVKSW LNGLRPKDQT SVGMSFVAGG
ISGTVAAVLT LPFDVVKTQR QVALGAMEAV RVNPLHVDST WLLLRRIRAE SGTKGLFAGF
LPRIIKAAPS CAIMISTYEF GKSFFQRLNQ DRLLGG*

speed

1.18 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