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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000590382
Querying Taster for transcript #2: ENST00000407327
Querying Taster for transcript #3: ENST00000335757
Querying Taster for transcript #4: ENST00000586078
MT speed 0 s - this script 4.113832 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SLC44A2	polymorphism_automatic	1.16772683966815e-07	simple_aae		affected		Q152R	single base exchange	rs2288904		show file
SLC44A2	polymorphism_automatic	1.16772683966815e-07	simple_aae		affected		Q154R	single base exchange	rs2288904		show file
SLC44A2	polymorphism_automatic	1.16772683966815e-07	simple_aae		affected		Q154R	single base exchange	rs2288904		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999883227316 (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 CM109047)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10742170A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC44A2

Ensembl transcript ID

ENST00000407327

Genbank transcript ID

NM_001145056

UniProt peptide

Q8IWA5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.455A>G
cDNA.476A>G
g.29038A>G

AA changes

Q152R Score: 43 explain score(s)

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

152

frameshift

known variant

Reference ID: rs2288904

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1692	709	2401
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM109047)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.939	0.604
	1.646	0.59
(flanking)	-0.899	0.375

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 gained	29037	0.87	mu: TGCTTCGAGATGGTG	CTTC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

152

mutated

all conserved

152

Ptroglodytes

all conserved

ENSPTRG00000010479

154

Mmulatta

no alignment

ENSMMUG00000003744

n/a

Fcatus

all conserved

ENSFCAG00000004885

154

Mmusculus

all conserved

ENSMUSG00000057193

154

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000037059

154

Dmelanogaster

not conserved

FBgn0039637

152

Celegans

all identical

F35C8.7

219

TTVTTF

Xtropicalis

all conserved

ENSXETG00000011650

153

protein features

start (aa)	end (aa)	feature	details
55	232	TOPO_DOM	Extracellular (Potential).	lost
153	153	CONFLICT	L -> F (in Ref. 3; CBJ93592).	might get lost (downstream of altered splice site)
187	187	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
200	200	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
233	253	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
254	256	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
257	277	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	315	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
316	336	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
337	364	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
365	385	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
386	457	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
417	417	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
458	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
481	504	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
526	563	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
531	531	CONFLICT	A -> G (in Ref. 1; CAB75542).	might get lost (downstream of altered splice site)
564	584	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
585	599	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
600	620	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
621	638	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
639	659	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
660	706	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
695	695	CONFLICT	L -> P (in Ref. 7; AAH40556).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2115 / 2115

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

705 / 705

position of stopcodon in wt / mu cDNA

2136 / 2136

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

22 / 22

chromosome

strand

last intron/exon boundary

2030

theoretical NMD boundary in CDS

1958

length of CDS

2115

coding sequence (CDS) position

455

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

476

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

29038

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

10742170

original gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

original cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

wildtype AA sequence

MEDERKNGAY GTPQKYDPTF KGPIYNRGCT DIICCVFLLL AIVGYVAVGI IAWTHGDPRK
VIYPTDSRGE FCGQKGTKNE NKPYLFYFNI VKCASPLVLL EFQCPTPQIC VEKCPDRYLT
YLNARSSRDF EYYKQFCVPG FKNNKGVAEV LQDGDCPAVL IPSKPLARRC FPAIHAYKGV
LMVGNETTYE DGHGSRKNIT DLVEGAKKAN GVLEARQLAM RIFEDYTVSW YWIIIGLVIA
MAMSLLFIIL LRFLAGIMVW VMIIMVILVL GYGIFHCYME YSRLRGEAGS DVSLVDLGFQ
TDFRVYLHLR QTWLAFMIIL SILEVIIILL LIFLRKRILI AIALIKEASR AVGYVMCSLL
YPLVTFFLLC LCIAYWASTA VFLSTSNEAV YKIFDDSPCP FTAKTCNPET FPSSNESRQC
PNARCQFAFY GGESGYHRAL LGLQIFNAFM FFWLANFVLA LGQVTLAGAF ASYYWALRKP
DDLPAFPLFS AFGRALRYHT GSLAFGALIL AIVQIIRVIL EYLDQRLKAA ENKFAKCLMT
CLKCCFWCLE KFIKFLNRNA YIMIAIYGTN FCTSARNAFF LLMRNIIRVA VLDKVTDFLF
LLGKLLIVGS VGILAFFFFT HRIRIVQDTA PPLNYYWVPI LTVIVGSYLI AHGFFSVYGM
CVDTLFLCFL EDLERNDGSA ERPYFMSSTL KKLLNKTNKK AAES*

mutated AA sequence

MEDERKNGAY GTPQKYDPTF KGPIYNRGCT DIICCVFLLL AIVGYVAVGI IAWTHGDPRK
VIYPTDSRGE FCGQKGTKNE NKPYLFYFNI VKCASPLVLL EFQCPTPQIC VEKCPDRYLT
YLNARSSRDF EYYKQFCVPG FKNNKGVAEV LRDGDCPAVL IPSKPLARRC FPAIHAYKGV
LMVGNETTYE DGHGSRKNIT DLVEGAKKAN GVLEARQLAM RIFEDYTVSW YWIIIGLVIA
MAMSLLFIIL LRFLAGIMVW VMIIMVILVL GYGIFHCYME YSRLRGEAGS DVSLVDLGFQ
TDFRVYLHLR QTWLAFMIIL SILEVIIILL LIFLRKRILI AIALIKEASR AVGYVMCSLL
YPLVTFFLLC LCIAYWASTA VFLSTSNEAV YKIFDDSPCP FTAKTCNPET FPSSNESRQC
PNARCQFAFY GGESGYHRAL LGLQIFNAFM FFWLANFVLA LGQVTLAGAF ASYYWALRKP
DDLPAFPLFS AFGRALRYHT GSLAFGALIL AIVQIIRVIL EYLDQRLKAA ENKFAKCLMT
CLKCCFWCLE KFIKFLNRNA YIMIAIYGTN FCTSARNAFF LLMRNIIRVA VLDKVTDFLF
LLGKLLIVGS VGILAFFFFT HRIRIVQDTA PPLNYYWVPI LTVIVGSYLI AHGFFSVYGM
CVDTLFLCFL EDLERNDGSA ERPYFMSSTL KKLLNKTNKK AAES*

speed

0.48 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: 0.999999883227316 (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 CM109047)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10742170A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC44A2

Ensembl transcript ID

ENST00000335757

Genbank transcript ID

NM_020428

UniProt peptide

Q8IWA5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.461A>G
cDNA.837A>G
g.29038A>G

AA changes

Q154R Score: 43 explain score(s)

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

154

frameshift

known variant

Reference ID: rs2288904

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1692	709	2401
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM109047)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.939	0.604
	1.646	0.59
(flanking)	-0.899	0.375

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 gained	29037	0.87	mu: TGCTTCGAGATGGTG	CTTC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

154

mutated

all conserved

154

Ptroglodytes

all conserved

ENSPTRG00000010479

154

Mmulatta

no alignment

ENSMMUG00000003744

n/a

Fcatus

all conserved

ENSFCAG00000004885

154

Mmusculus

all conserved

ENSMUSG00000057193

154

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000037059

154

Dmelanogaster

not conserved

FBgn0039637

152

Celegans

all identical

F35C8.7

214

TTVTTF

Xtropicalis

all conserved

ENSXETG00000011650

154

protein features

start (aa)	end (aa)	feature	details
55	232	TOPO_DOM	Extracellular (Potential).	lost
153	153	CONFLICT	L -> F (in Ref. 3; CBJ93592).	might get lost (downstream of altered splice site)
187	187	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
200	200	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
233	253	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
254	256	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
257	277	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	315	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
316	336	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
337	364	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
365	385	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
386	457	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
417	417	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
458	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
481	504	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
526	563	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
531	531	CONFLICT	A -> G (in Ref. 1; CAB75542).	might get lost (downstream of altered splice site)
564	584	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
585	599	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
600	620	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
621	638	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
639	659	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
660	706	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
695	695	CONFLICT	L -> P (in Ref. 7; AAH40556).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2121 / 2121

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

707 / 707

position of stopcodon in wt / mu cDNA

2497 / 2497

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

377 / 377

chromosome

strand

last intron/exon boundary

2391

theoretical NMD boundary in CDS

1964

length of CDS

2121

coding sequence (CDS) position

461

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

837

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

29038

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

10742170

original gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

original cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

wildtype AA sequence

MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLQDGDCPA VLIPSKPLAR RCFPAIHAYK
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY
GMCVDTLFLC FLEDLERNDG SAERPYFMSS TLKKLLNKTN KKAAES*

mutated AA sequence

MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLRDGDCPA VLIPSKPLAR RCFPAIHAYK
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY
GMCVDTLFLC FLEDLERNDG SAERPYFMSS TLKKLLNKTN KKAAES*

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999883227316 (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 CM109047)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10742170A>GN/A show variant in all transcripts IGV

HGNC symbol

SLC44A2

Ensembl transcript ID

ENST00000586078

Genbank transcript ID

N/A

UniProt peptide

Q8IWA5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.461A>G
cDNA.570A>G
g.29038A>G

AA changes

Q154R Score: 43 explain score(s)

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

154

frameshift

known variant

Reference ID: rs2288904

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1692	709	2401
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM109047)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.939	0.604
	1.646	0.59
(flanking)	-0.899	0.375

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 gained	29037	0.87	mu: TGCTTCGAGATGGTG	CTTC\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

154

mutated

all conserved

154

Ptroglodytes

all conserved

ENSPTRG00000010479

154

Mmulatta

no alignment

ENSMMUG00000003744

n/a

Fcatus

all conserved

ENSFCAG00000004885

154

Mmusculus

all conserved

ENSMUSG00000057193

154

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000037059

154

Dmelanogaster

not conserved

FBgn0039637

152

Celegans

all identical

F35C8.7

214

TTVTTF

Xtropicalis

all conserved

ENSXETG00000011650

154

protein features

start (aa)	end (aa)	feature	details
55	232	TOPO_DOM	Extracellular (Potential).	lost
153	153	CONFLICT	L -> F (in Ref. 3; CBJ93592).	might get lost (downstream of altered splice site)
187	187	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
200	200	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
233	253	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
254	256	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
257	277	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
278	315	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
316	336	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
337	364	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
365	385	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
386	457	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
417	417	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
458	480	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
481	504	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
505	525	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
526	563	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
531	531	CONFLICT	A -> G (in Ref. 1; CAB75542).	might get lost (downstream of altered splice site)
564	584	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
585	599	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
600	620	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
621	638	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
639	659	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
660	706	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
695	695	CONFLICT	L -> P (in Ref. 7; AAH40556).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2136 / 2136

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

712 / 712

position of stopcodon in wt / mu cDNA

2245 / 2245

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

110 / 110

chromosome

strand

last intron/exon boundary

2124

theoretical NMD boundary in CDS

1964

length of CDS

2136

coding sequence (CDS) position

461

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

570

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

29038

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

10742170

original gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered gDNA sequence snippet

GGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

original cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG

altered cDNA sequence snippet

AGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG

wildtype AA sequence

mutated AA sequence

MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLRDGDCPA VLIPSKPLAR RCFPAIHAYK
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY
GMCVDTLFLC FCEDLERNDG SQERPYFMSP ELRDILLKGS AEEGKRAEAE E*

speed

0.48 s

Problems

annotation problem

The chosen transcript ENST00000590382 on chromosome 19 has no correct in-frame stop codon (TGA, TAA or TAG) annotated
This is likely to cause a false prediction. You should choose another transcript.

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