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: ENST00000588072
Querying Taster for transcript #2: ENST00000317235
Querying Taster for transcript #3: ENST00000309976
Querying Taster for transcript #4: ENST00000344987
Querying Taster for transcript #5: ENST00000399978
MT speed 0 s - this script 6.155375 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MPPE1	polymorphism_automatic	6.64940325023622e-11	simple_aae				A268P	single base exchange	rs662515		show file
MPPE1	polymorphism_automatic	6.64940325023622e-11	simple_aae				A269P	single base exchange	rs662515		show file
MPPE1	polymorphism_automatic	6.64940325023622e-11	simple_aae				A246P	single base exchange	rs662515		show file
MPPE1	polymorphism_automatic	0.946752549182952	without_aae					single base exchange	rs662515		show file
MPPE1	polymorphism_automatic	0.946752549182952	without_aae					single base exchange	rs662515		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999933506 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000588072

Genbank transcript ID

NM_023075

UniProt peptide

Q53F39

alteration type

single base exchange

alteration region

CDS

DNA changes

c.802G>C
cDNA.2024G>C
g.22660G>C

AA changes

A268P Score: 27 explain score(s)

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

268

frameshift

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

268

mutated

not conserved

268

Ptroglodytes

not conserved

ENSPTRG00000009872

268

Mmulatta

not conserved

ENSMMUG00000011467

268

Fcatus

not conserved

ENSFCAG00000004952

265

Mmusculus

not conserved

ENSMUSG00000062526

269

Ggallus

not conserved

ENSGALG00000013794

270

Trubripes

all identical

ENSTRUG00000009858

267

Drerio

not conserved

ENSDARG00000045416

253

Dmelanogaster

not conserved

FBgn0031997

244

Celegans

not conserved

B0511.13

227

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1191 / 1191

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

397 / 397

position of stopcodon in wt / mu cDNA

2413 / 2413

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

1223 / 1223

chromosome

strand

-1

last intron/exon boundary

2231

theoretical NMD boundary in CDS

958

length of CDS

1191

coding sequence (CDS) position

802

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

2024

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

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREARGS SRCGPGPLLP
TSAPVLLQHY PLYRRSDANC SGEDAAPAEE RDIPFKENYD VLSREASQKL LWWLQPRLVL
SGHTHSACEV HHGGRVPELS VPSFSWRNRN NPSFIMGSIT PTDYTLSKCY LPREDVVLII
YCGVVGFLVV LTLTHFGLLA SPFLSGLNLL GKRKTR*

mutated AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREARGS SRCGPGPLLP
TSAPVLLQHY PLYRRSDANC SGEDAAPPEE RDIPFKENYD VLSREASQKL LWWLQPRLVL
SGHTHSACEV HHGGRVPELS VPSFSWRNRN NPSFIMGSIT PTDYTLSKCY LPREDVVLII
YCGVVGFLVV LTLTHFGLLA SPFLSGLNLL GKRKTR*

speed

0.79 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: 0.999999999933506 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000399978

Genbank transcript ID

N/A

UniProt peptide

Q53F39

alteration type

single base exchange

alteration region

CDS

DNA changes

c.805G>C
cDNA.1446G>C
g.22660G>C

AA changes

A269P Score: 27 explain score(s)

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

269

frameshift

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

269

mutated

not conserved

269

Ptroglodytes

not conserved

ENSPTRG00000009872

268

Mmulatta

not conserved

ENSMMUG00000011467

268

Fcatus

not conserved

ENSFCAG00000004952

265

Mmusculus

not conserved

ENSMUSG00000062526

269

Ggallus

not conserved

ENSGALG00000013794

270

Trubripes

all identical

ENSTRUG00000009858

267

Drerio

not conserved

ENSDARG00000045416

253

Dmelanogaster

not conserved

FBgn0031997

244

Celegans

not conserved

B0511.13

227

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1026 / 1026

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

342 / 342

position of stopcodon in wt / mu cDNA

1667 / 1667

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

642 / 642

chromosome

strand

-1

last intron/exon boundary

1653

theoretical NMD boundary in CDS

961

length of CDS

1026

coding sequence (CDS) position

805

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

1446

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

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREQARG SSRCGPGPLL
PTSAPVLLQH YPLYRRSDAN CSGEDAAPAE ERDIPFKENY DVLSREASQK LLWWLQPRLV
LSGHTHSACE VHHGGRVPEL SVPSFSWRNR NNPSFIMGTD A*

mutated AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREQARG SSRCGPGPLL
PTSAPVLLQH YPLYRRSDAN CSGEDAAPPE ERDIPFKENY DVLSREASQK LLWWLQPRLV
LSGHTHSACE VHHGGRVPEL SVPSFSWRNR NNPSFIMGTD A*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999933506 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000344987

Genbank transcript ID

N/A

UniProt peptide

Q53F39

alteration type

single base exchange

alteration region

CDS

DNA changes

c.736G>C
cDNA.1065G>C
g.22660G>C

AA changes

A246P Score: 27 explain score(s)

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

246

frameshift

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

246

mutated

not conserved

246

Ptroglodytes

not conserved

ENSPTRG00000009872

260

Mmulatta

not conserved

ENSMMUG00000011467

260

Fcatus

not conserved

ENSFCAG00000004952

256

Mmusculus

not conserved

ENSMUSG00000062526

257

Ggallus

not conserved

ENSGALG00000013794

270

Trubripes

all identical

ENSTRUG00000009858

257

Drerio

not conserved

ENSDARG00000045416

253

Dmelanogaster

not conserved

FBgn0031997

244

Celegans

not conserved

B0511.13

223

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1125 / 1125

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

375 / 375

position of stopcodon in wt / mu cDNA

1454 / 1454

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

330 / 330

chromosome

strand

-1

last intron/exon boundary

1272

theoretical NMD boundary in CDS

892

length of CDS

1125

coding sequence (CDS) position

736

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

1065

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

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered cDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREHYPL YRRSDANCSG
EDAAPAEERD IPFKENYDVL SREASQKLLW WLQPRLVLSG HTHSACEVHH GGRVPELSVP
SFSWRNRNNP SFIMGSITPT DYTLSKCYLP REDVVLIIYC GVVGFLVVLT LTHFGLLASP
FLSGLNLLGK RKTR*

mutated AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREHYPL YRRSDANCSG
EDAAPPEERD IPFKENYDVL SREASQKLLW WLQPRLVLSG HTHSACEVHH GGRVPELSVP
SFSWRNRNNP SFIMGSITPT DYTLSKCYLP REDVVLIIYC GVVGFLVVLT LTHFGLLASP
FLSGLNLLGK RKTR*

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.053247450817048 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000309976

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.22660G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

353

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

243 / 243

chromosome

strand

-1

last intron/exon boundary

1062

theoretical NMD boundary in CDS

769

length of CDS

1002

coding sequence (CDS) position

N/A

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

N/A

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

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSRELLWW LQPRLVLSGH
THSACEVHHG GRVPELSVPS FSWRNRNNPS FIMGSITPTD YTLSKCYLPR EDVVLIIYCG
VVGFLVVLTL THFGLLASPF LSGLNLLGKR KTR*

mutated AA sequence

N/A

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.053247450817048 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000317235

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.22660G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

353

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

349 / 349

chromosome

strand

-1

last intron/exon boundary

1168

theoretical NMD boundary in CDS

769

length of CDS

1002

coding sequence (CDS) position

N/A

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

N/A

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

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSRELLWW LQPRLVLSGH
THSACEVHHG GRVPELSVPS FSWRNRNNPS FIMGSITPTD YTLSKCYLPR EDVVLIIYCG
VVGFLVVLTL THFGLLASPF LSGLNLLGKR KTR*

mutated AA sequence

N/A

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

mutation t@sting

Prediction

polymorphism

Problems