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: ENST00000373324
Querying Taster for transcript #2: ENST00000323301
Querying Taster for transcript #3: ENST00000373322
Querying Taster for transcript #4: ENST00000300417
MT speed 0 s - this script 4.908699 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
LRSAM1	polymorphism_automatic	1.48552230516685e-08	simple_aae				N318D	single base exchange	rs1539567		show file
LRSAM1	polymorphism_automatic	1.48552230516685e-08	simple_aae				N318D	single base exchange	rs1539567		show file
LRSAM1	polymorphism_automatic	1.48552230516685e-08	simple_aae				N318D	single base exchange	rs1539567		show file
LRSAM1	polymorphism_automatic	1.48552230516685e-08	simple_aae				N318D	single base exchange	rs1539567		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999985144777 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:130242166A>GN/A show variant in all transcripts IGV

HGNC symbol

LRSAM1

Ensembl transcript ID

ENST00000373324

Genbank transcript ID

NM_001190723

UniProt peptide

Q6UWE0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.952A>G
cDNA.1305A>G
g.28402A>G

AA changes

N318D Score: 23 explain score(s)

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

318

frameshift

known variant

Reference ID: rs1539567

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1347	948	2295
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.626	0.6
	1.468	0.64
(flanking)	3.222	0.632

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

318

mutated

all conserved

318

Ptroglodytes

all conserved

ENSPTRG00000021390

318

Mmulatta

all conserved

ENSMMUG00000009956

320

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000026792

318

Ggallus

not conserved

ENSGALG00000008819

318

Trubripes

all conserved

ENSTRUG00000000726

310

Drerio

not conserved

ENSDARG00000060683

310

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003943

316

protein features

start (aa)	end (aa)	feature	details
254	380	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2091 / 2091

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

697 / 697

position of stopcodon in wt / mu cDNA

2444 / 2444

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

354 / 354

chromosome

strand

last intron/exon boundary

2319

theoretical NMD boundary in CDS

1915

length of CDS

2091

coding sequence (CDS) position

952

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

1305

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

28402

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

130242166

original gDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered gDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

original cDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered cDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

wildtype AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQEMISEQ
RWALSSLLQQ LLKEKQQREE ELREILTELE AKSETRQENY WLIQYQRLLN QKPLSLKLQE
EGMERQLVAL LEELSAEHYL PIFAHHRLSL DLLSQMSPGD LAKVGVSEAG LQHEILRRVQ
ELLDAARIQP ELKPPMGEVV TPTAPQEPPE SVRPSAPPAE LEVQASECVV CLEREAQMIF
LNCGHVCCCQ QCCQPLRTCP LCRQDIAQRL RIYHSS*

mutated AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLDAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQEMISEQ
RWALSSLLQQ LLKEKQQREE ELREILTELE AKSETRQENY WLIQYQRLLN QKPLSLKLQE
EGMERQLVAL LEELSAEHYL PIFAHHRLSL DLLSQMSPGD LAKVGVSEAG LQHEILRRVQ
ELLDAARIQP ELKPPMGEVV TPTAPQEPPE SVRPSAPPAE LEVQASECVV CLEREAQMIF
LNCGHVCCCQ QCCQPLRTCP LCRQDIAQRL RIYHSS*

speed

0.94 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: 0.999999985144777 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:130242166A>GN/A show variant in all transcripts IGV

HGNC symbol

LRSAM1

Ensembl transcript ID

ENST00000323301

Genbank transcript ID

NM_138361

UniProt peptide

Q6UWE0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.952A>G
cDNA.1556A>G
g.28402A>G

AA changes

N318D Score: 23 explain score(s)

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

318

frameshift

known variant

Reference ID: rs1539567

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1347	948	2295
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.626	0.6
	1.468	0.64
(flanking)	3.222	0.632

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

318

mutated

all conserved

318

Ptroglodytes

all conserved

ENSPTRG00000021390

318

Mmulatta

all conserved

ENSMMUG00000009956

320

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000026792

318

Ggallus

not conserved

ENSGALG00000008819

318

Trubripes

all conserved

ENSTRUG00000000726

310

Drerio

not conserved

ENSDARG00000060683

310

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003943

316

protein features

start (aa)	end (aa)	feature	details
254	380	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2172 / 2172

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

724 / 724

position of stopcodon in wt / mu cDNA

2776 / 2776

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

605 / 605

chromosome

strand

last intron/exon boundary

2651

theoretical NMD boundary in CDS

1996

length of CDS

2172

coding sequence (CDS) position

952

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

1556

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

28402

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

130242166

original gDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered gDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

original cDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered cDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

wildtype AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

mutated AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLDAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

speed

1.04 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999985144777 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:130242166A>GN/A show variant in all transcripts IGV

HGNC symbol

LRSAM1

Ensembl transcript ID

ENST00000373322

Genbank transcript ID

NM_001005374

UniProt peptide

Q6UWE0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.952A>G
cDNA.1029A>G
g.28402A>G

AA changes

N318D Score: 23 explain score(s)

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

318

frameshift

known variant

Reference ID: rs1539567

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1347	948	2295
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.626	0.6
	1.468	0.64
(flanking)	3.222	0.632

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

318

mutated

all conserved

318

Ptroglodytes

all conserved

ENSPTRG00000021390

318

Mmulatta

all conserved

ENSMMUG00000009956

320

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000026792

318

Ggallus

not conserved

ENSGALG00000008819

318

Trubripes

all conserved

ENSTRUG00000000726

310

Drerio

not conserved

ENSDARG00000060683

310

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003943

316

protein features

start (aa)	end (aa)	feature	details
254	380	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2172 / 2172

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

724 / 724

position of stopcodon in wt / mu cDNA

2249 / 2249

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

78 / 78

chromosome

strand

last intron/exon boundary

2124

theoretical NMD boundary in CDS

1996

length of CDS

2172

coding sequence (CDS) position

952

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

1029

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

28402

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

130242166

original gDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered gDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

original cDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered cDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

wildtype AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

mutated AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLDAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

speed

1.23 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999985144777 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:130242166A>GN/A show variant in all transcripts IGV

HGNC symbol

LRSAM1

Ensembl transcript ID

ENST00000300417

Genbank transcript ID

NM_001005373

UniProt peptide

Q6UWE0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.952A>G
cDNA.1324A>G
g.28402A>G

AA changes

N318D Score: 23 explain score(s)

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

318

frameshift

known variant

Reference ID: rs1539567

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1347	948	2295
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.626	0.6
	1.468	0.64
(flanking)	3.222	0.632

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

318

mutated

all conserved

318

Ptroglodytes

all conserved

ENSPTRG00000021390

318

Mmulatta

all conserved

ENSMMUG00000009956

320

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000026792

318

Ggallus

not conserved

ENSGALG00000008819

318

Trubripes

all conserved

ENSTRUG00000000726

310

Drerio

not conserved

ENSDARG00000060683

310

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000003943

316

protein features

start (aa)	end (aa)	feature	details
254	380	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2172 / 2172

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

724 / 724

position of stopcodon in wt / mu cDNA

2544 / 2544

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

373 / 373

chromosome

strand

last intron/exon boundary

2419

theoretical NMD boundary in CDS

1996

length of CDS

2172

coding sequence (CDS) position

952

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

1324

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

28402

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

130242166

original gDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered gDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

original cDNA sequence snippet

GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG

altered cDNA sequence snippet

GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG

wildtype AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

mutated AA sequence

MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLDAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*

speed

0.63 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

Problems