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: ENST00000296589
Querying Taster for transcript #2: ENST00000382102
Querying Taster for transcript #3: ENST00000509381
Querying Taster for transcript #4: ENST00000342059
Querying Taster for transcript #5: ENST00000345083
MT speed 0 s - this script 4.855585 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC45A2	polymorphism_automatic	0.999846624899204	simple_aae		affected		L266F	single base exchange	rs16891982		show file
SLC45A2	polymorphism_automatic	0.999985177029883	simple_aae		affected		L315F	single base exchange	rs16891982		show file
SLC45A2	polymorphism_automatic	0.999991581204003	simple_aae		affected		L374F	single base exchange	rs16891982		show file
SLC45A2	polymorphism_automatic	0.999991581204003	simple_aae		affected		L374F	single base exchange	rs16891982		show file
SLC45A2	polymorphism_automatic	1	without_aae		affected			single base exchange	rs16891982		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000153375100796028 (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 CM051556)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000345083

Genbank transcript ID

N/A

UniProt peptide

Q9UMX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.798G>C
cDNA.890G>C
g.33143G>C

AA changes

L266F Score: 22 explain score(s)

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

266

frameshift

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

266

mutated

not conserved

266

Ptroglodytes

all identical

ENSPTRG00000016778

374

Mmulatta

all identical

ENSMMUG00000009574

374

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022243

374

Ggallus

all identical

ENSGALG00000003310

334

Trubripes

all identical

ENSTRUG00000014435

416

Drerio

all conserved

ENSDARG00000002593

291

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002556

393

protein features

start (aa)	end (aa)	feature	details
238	318	TOPO_DOM	Cytoplasmic (Potential).	lost
319	339	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
340	366	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
356	356	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
367	387	TRANSMEM	Helical; Name=8; (Potential).	might get lost (downstream of altered splice site)
388	398	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
399	419	TRANSMEM	Helical; Name=9; (Potential).	might get lost (downstream of altered splice site)
420	425	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
426	446	TRANSMEM	Helical; Name=10; (Potential).	might get lost (downstream of altered splice site)
447	477	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
478	498	TRANSMEM	Helical; Name=11; (Potential).	might get lost (downstream of altered splice site)
499	504	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; Name=12; (Potential).	might get lost (downstream of altered splice site)
526	530	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

897 / 897

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

299 / 299

position of stopcodon in wt / mu cDNA

989 / 989

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

93 / 93

chromosome

strand

-1

last intron/exon boundary

801

theoretical NMD boundary in CDS

658

length of CDS

897

coding sequence (CDS) position

798

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

890

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGTR RAMTLKSLLR ALVNMPPHYR YLCISHLIGW TAFLSNMLFF TDFMGQIVYR
GDPYSAHNST EFLIYERGVE VGCWGLCINS VFSSLYSCKS FSLLRMSSKS FWSSTTWI*

mutated AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGTR RAMTLKSLLR ALVNMPPHYR YLCISHLIGW TAFLSNMLFF TDFMGQIVYR
GDPYSAHNST EFLIYERGVE VGCWGFCINS VFSSLYSCKS FSLLRMSSKS FWSSTTWI*

speed

0.93 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: 1.48229701171906e-05 (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 CM051556)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000342059

Genbank transcript ID

N/A

UniProt peptide

Q9UMX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.945G>C
cDNA.1037G>C
g.33143G>C

AA changes

L315F Score: 22 explain score(s)

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

315

frameshift

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

315

mutated

not conserved

315

Ptroglodytes

all identical

ENSPTRG00000016778

374

Mmulatta

all identical

ENSMMUG00000009574

374

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022243

374

Ggallus

all identical

ENSGALG00000003310

334

Trubripes

all identical

ENSTRUG00000014435

416

Drerio

all identical

ENSDARG00000002593

403

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002556

393

protein features

start (aa)	end (aa)	feature	details
238	318	TOPO_DOM	Cytoplasmic (Potential).	lost
319	339	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
340	366	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
356	356	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
367	387	TRANSMEM	Helical; Name=8; (Potential).	might get lost (downstream of altered splice site)
388	398	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
399	419	TRANSMEM	Helical; Name=9; (Potential).	might get lost (downstream of altered splice site)
420	425	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
426	446	TRANSMEM	Helical; Name=10; (Potential).	might get lost (downstream of altered splice site)
447	477	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
478	498	TRANSMEM	Helical; Name=11; (Potential).	might get lost (downstream of altered splice site)
499	504	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; Name=12; (Potential).	might get lost (downstream of altered splice site)
526	530	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1416 / 1416

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

472 / 472

position of stopcodon in wt / mu cDNA

1508 / 1508

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

93 / 93

chromosome

strand

-1

last intron/exon boundary

1284

theoretical NMD boundary in CDS

1141

length of CDS

1416

coding sequence (CDS) position

945

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

1037

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAGF GGALGYLLGA IDWAHLELGR LLGTEFQVMF FFSALVLTLC FTVHLCSISE
APLTEVAKGI PPQQTPQDPP LSSDGMYEYG SIEKVKNGYV NPELAMQGAK NKNHAEQTRR
AMTLKSLLRA LVNMPPHYRY LCISHLIGWT AFLSNMLFFT DFMGQIVYRG DPYSAHNSTE
FLIYERGVEV GCWGLCINSV FSSLYSYFQK VLVSYIGLKG LYFTGYLLFG LGTGFIGLFP
NVYSTLVLCS LFGVMSSTLY TVPFNLITEY HREEEKERQQ APGGDPDNSV RGKGMDCATL
TCMVQLAQIL VGGGLGFLVN TAGTVVVVVI TASAVALIGC CFVALFVRYV D*

mutated AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAGF GGALGYLLGA IDWAHLELGR LLGTEFQVMF FFSALVLTLC FTVHLCSISE
APLTEVAKGI PPQQTPQDPP LSSDGMYEYG SIEKVKNGYV NPELAMQGAK NKNHAEQTRR
AMTLKSLLRA LVNMPPHYRY LCISHLIGWT AFLSNMLFFT DFMGQIVYRG DPYSAHNSTE
FLIYERGVEV GCWGFCINSV FSSLYSYFQK VLVSYIGLKG LYFTGYLLFG LGTGFIGLFP
NVYSTLVLCS LFGVMSSTLY TVPFNLITEY HREEEKERQQ APGGDPDNSV RGKGMDCATL
TCMVQLAQIL VGGGLGFLVN TAGTVVVVVI TASAVALIGC CFVALFVRYV D*

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 8.41879599711805e-06 (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 CM051556)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000296589

Genbank transcript ID

NM_016180

UniProt peptide

Q9UMX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1122G>C
cDNA.1269G>C
g.33143G>C

AA changes

L374F Score: 22 explain score(s)

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

374

frameshift

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

374

mutated

not conserved

374

Ptroglodytes

all identical

ENSPTRG00000016778

374

Mmulatta

all identical

ENSMMUG00000009574

374

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022243

374

Ggallus

all identical

ENSGALG00000003310

334

Trubripes

all identical

ENSTRUG00000014435

416

Drerio

all identical

ENSDARG00000002593

403

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002556

393

protein features

start (aa)	end (aa)	feature	details
367	387	TRANSMEM	Helical; Name=8; (Potential).	lost
388	398	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
399	419	TRANSMEM	Helical; Name=9; (Potential).	might get lost (downstream of altered splice site)
420	425	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
426	446	TRANSMEM	Helical; Name=10; (Potential).	might get lost (downstream of altered splice site)
447	477	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
478	498	TRANSMEM	Helical; Name=11; (Potential).	might get lost (downstream of altered splice site)
499	504	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; Name=12; (Potential).	might get lost (downstream of altered splice site)
526	530	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1593 / 1593

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

531 / 531

position of stopcodon in wt / mu cDNA

1740 / 1740

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

148 / 148

chromosome

strand

-1

last intron/exon boundary

1516

theoretical NMD boundary in CDS

1318

length of CDS

1593

coding sequence (CDS) position

1122

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

1269

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF
LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT
CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD *

mutated AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF
LIYERGVEVG CWGFCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT
CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD *

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 8.41879599711805e-06 (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 CM051556)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000382102

Genbank transcript ID

NM_001012509

UniProt peptide

Q9UMX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1122G>C
cDNA.1180G>C
g.33143G>C

AA changes

L374F Score: 22 explain score(s)

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

374

frameshift

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

374

mutated

not conserved

374

Ptroglodytes

all identical

ENSPTRG00000016778

374

Mmulatta

all identical

ENSMMUG00000009574

374

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022243

374

Ggallus

all identical

ENSGALG00000003310

334

Trubripes

all identical

ENSTRUG00000014435

416

Drerio

all identical

ENSDARG00000002593

403

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002556

393

protein features

start (aa)	end (aa)	feature	details
367	387	TRANSMEM	Helical; Name=8; (Potential).	lost
388	398	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
399	419	TRANSMEM	Helical; Name=9; (Potential).	might get lost (downstream of altered splice site)
420	425	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
426	446	TRANSMEM	Helical; Name=10; (Potential).	might get lost (downstream of altered splice site)
447	477	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
478	498	TRANSMEM	Helical; Name=11; (Potential).	might get lost (downstream of altered splice site)
499	504	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; Name=12; (Potential).	might get lost (downstream of altered splice site)
526	530	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1383 / 1383

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

461 / 461

position of stopcodon in wt / mu cDNA

1441 / 1441

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

59 / 59

chromosome

strand

-1

last intron/exon boundary

1215

theoretical NMD boundary in CDS

1106

length of CDS

1383

coding sequence (CDS) position

1122

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

1180

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF
LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKEVCCH *

mutated AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF
LIYERGVEVG CWGFCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKEVCCH *

speed

1.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.15659617231668e-25 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM051556)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000509381

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.857G>C
g.33143G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

splice site change occurs after stopcodon (at aa 268)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

62 / 62

chromosome

strand

-1

last intron/exon boundary

768

theoretical NMD boundary in CDS

656

length of CDS

732

coding sequence (CDS) position

N/A

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

857

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

mutated AA sequence

N/A

speed

1.33 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