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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000448305
Querying Taster for transcript #2: ENST00000298845
Querying Taster for transcript #3: ENST00000424550
Querying Taster for transcript #4: ENST00000337425
Querying Taster for transcript #5: ENST00000380365
Querying Taster for transcript #6: ENST00000546329
MT speed 0 s - this script 5.557689 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V250A	single base exchange	rs11628722		show file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V248A	single base exchange	rs11628722		show file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V199A	single base exchange	rs11628722		show file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V348A	single base exchange	rs11628722		show file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V330A	single base exchange	rs11628722		show file
SERPINA9	polymorphism_automatic	9.779954623923e-13	simple_aae				V312A	single base exchange	rs11628722		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000448305

Genbank transcript ID

N/A

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.749T>C
cDNA.879T>C
g.14922T>C

AA changes

V250A Score: 64 explain score(s)

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

250

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

250

mutated

not conserved

250

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1014 / 1014

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

338 / 338

position of stopcodon in wt / mu cDNA

1144 / 1144

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

131 / 131

chromosome

strand

-1

last intron/exon boundary

941

theoretical NMD boundary in CDS

760

length of CDS

1014

coding sequence (CDS) position

749

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

879

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS LTVPSKDLTL KMGSALFVKK
ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK KKTQGKVVDI IQGLDLLTAM
VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM HQKEQFAFGV DTELNCFVLQ
MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK RWIEVFIPRF SISASYNLET
ILPKMGIQNV FDKNADFSGI AKRDSLQVSK ATHKAVLDVS EEGTEATAAT TTKFIVRSKD
GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*

mutated AA sequence

MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS LTVPSKDLTL KMGSALFVKK
ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK KKTQGKVVDI IQGLDLLTAM
VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM HQKEQFAFGV DTELNCFVLQ
MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK RWIEVFIPRF SISASYNLET
ILPKMGIQNA FDKNADFSGI AKRDSLQVSK ATHKAVLDVS EEGTEATAAT TTKFIVRSKD
GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*

speed

1.22 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: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000298845

Genbank transcript ID

NM_001042518

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.743T>C
cDNA.782T>C
g.14922T>C

AA changes

V248A Score: 64 explain score(s)

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

248

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

248

mutated

not conserved

248

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

position of stopcodon in wt / mu cDNA

1047 / 1047

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

40 / 40

chromosome

strand

-1

last intron/exon boundary

844

theoretical NMD boundary in CDS

754

length of CDS

1008

coding sequence (CDS) position

743

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

782

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL
VNHIFFKAKW EKPFHPEYTR KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD
YKGDAVAFFV LPSKGKMRQL EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL
PKMGIQNVFD KNADFSGIAK RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP
SYFTVSFNRT FLMMITNKAT DGILFLGKVE NPTKS*

mutated AA sequence

MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL
VNHIFFKAKW EKPFHPEYTR KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD
YKGDAVAFFV LPSKGKMRQL EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL
PKMGIQNAFD KNADFSGIAK RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP
SYFTVSFNRT FLMMITNKAT DGILFLGKVE NPTKS*

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000424550

Genbank transcript ID

N/A

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.596T>C
cDNA.821T>C
g.14922T>C

AA changes

V199A Score: 64 explain score(s)

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

199

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

199

mutated

not conserved

199

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

861 / 861

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

287 / 287

position of stopcodon in wt / mu cDNA

1086 / 1086

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

226 / 226

chromosome

strand

-1

last intron/exon boundary

883

theoretical NMD boundary in CDS

607

length of CDS

861

coding sequence (CDS) position

596

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

821

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MGSALFVKKE LQLQANFLGN VKRLYEAEVF STDFSNPSIA QARINSHVKK KTQGKVVDII
QGLDLLTAMV LVNHIFFKAK WEKPFHPEYT RKNFPFLVGE QVTVHVPMMH QKEQFAFGVD
TELNCFVLQM DYKGDAVAFF VLPSKGKMRQ LEQALSARTL RKWSHSLQKR WIEVFIPRFS
ISASYNLETI LPKMGIQNVF DKNADFSGIA KRDSLQVSKA THKAVLDVSE EGTEATAATT
TKFIVRSKDG PSYFTVSFNR TFLMMITNKA TDGILFLGKV ENPTKS*

mutated AA sequence

MGSALFVKKE LQLQANFLGN VKRLYEAEVF STDFSNPSIA QARINSHVKK KTQGKVVDII
QGLDLLTAMV LVNHIFFKAK WEKPFHPEYT RKNFPFLVGE QVTVHVPMMH QKEQFAFGVD
TELNCFVLQM DYKGDAVAFF VLPSKGKMRQ LEQALSARTL RKWSHSLQKR WIEVFIPRFS
ISASYNLETI LPKMGIQNAF DKNADFSGIA KRDSLQVSKA THKAVLDVSE EGTEATAATT
TKFIVRSKDG PSYFTVSFNR TFLMMITNKA TDGILFLGKV ENPTKS*

speed

1.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000337425

Genbank transcript ID

NM_175739

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1043T>C
cDNA.1118T>C
g.14922T>C

AA changes

V348A Score: 64 explain score(s)

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

348

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

348

mutated

not conserved

348

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1308 / 1308

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

436 / 436

position of stopcodon in wt / mu cDNA

1383 / 1383

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

76 / 76

chromosome

strand

-1

last intron/exon boundary

1180

theoretical NMD boundary in CDS

1054

length of CDS

1308

coding sequence (CDS) position

1043

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

1118

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP VSVSTSLAML SLGAHSVTKT QILQGLGFNL
THTPESAIHQ GFQHLVHSLT VPSKDLTLKM GSALFVKKEL QLQANFLGNV KRLYEAEVFS
TDFSNPSIAQ ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL VNHIFFKAKW EKPFHPEYTR
KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD YKGDAVAFFV LPSKGKMRQL
EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL PKMGIQNVFD KNADFSGIAK
RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP SYFTVSFNRT FLMMITNKAT
DGILFLGKVE NPTKS*

mutated AA sequence

MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP VSVSTSLAML SLGAHSVTKT QILQGLGFNL
THTPESAIHQ GFQHLVHSLT VPSKDLTLKM GSALFVKKEL QLQANFLGNV KRLYEAEVFS
TDFSNPSIAQ ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL VNHIFFKAKW EKPFHPEYTR
KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD YKGDAVAFFV LPSKGKMRQL
EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL PKMGIQNAFD KNADFSGIAK
RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP SYFTVSFNRT FLMMITNKAT
DGILFLGKVE NPTKS*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000380365

Genbank transcript ID

N/A

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.989T>C
cDNA.1068T>C
g.14922T>C

AA changes

V330A Score: 64 explain score(s)

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

330

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

330

mutated

not conserved

330

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1254 / 1254

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

418 / 418

position of stopcodon in wt / mu cDNA

1333 / 1333

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

1130

theoretical NMD boundary in CDS

1000

length of CDS

1254

coding sequence (CDS) position

989

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

1068

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MASYLYGVLF AVGLCAPIYC VSPANAPSAY PRPSSTKSTP ASQVYSLNTD FAFRLYRRLV
LETPSQNIFF SPVSVSTSLA MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS
LTVPSKDLTL KMGSALFVKK ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK
KKTQGKVVDI IQGLDLLTAM VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM
HQKEQFAFGV DTELNCFVLQ MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK
RWIEVFIPRF SISASYNLET ILPKMGIQNV FDKNADFSGI AKRDSLQVSK ATHKAVLDVS
EEGTEATAAT TTKFIVRSKD GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*

mutated AA sequence

MASYLYGVLF AVGLCAPIYC VSPANAPSAY PRPSSTKSTP ASQVYSLNTD FAFRLYRRLV
LETPSQNIFF SPVSVSTSLA MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS
LTVPSKDLTL KMGSALFVKK ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK
KKTQGKVVDI IQGLDLLTAM VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM
HQKEQFAFGV DTELNCFVLQ MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK
RWIEVFIPRF SISASYNLET ILPKMGIQNA FDKNADFSGI AKRDSLQVSK ATHKAVLDVS
EEGTEATAAT TTKFIVRSKD GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (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)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000546329

Genbank transcript ID

N/A

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.935T>C
cDNA.1014T>C
g.14922T>C

AA changes

V312A Score: 64 explain score(s)

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

312

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

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	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

312

mutated

not conserved

312

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1005 / 1005

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

335 / 335

position of stopcodon in wt / mu cDNA

1084 / 1084

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

928

theoretical NMD boundary in CDS

798

length of CDS

1005

coding sequence (CDS) position

935

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

1014

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

14922

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

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MRSAGGRGEI KVRRELQPSK QVSGLTNHAR TGQEKRNLQR LVLETPSQNI FFSPVSVSTS
LAMLSLGAHS VTKTQILQGL GFNLTHTPES AIHQGFQHLV HSLTVPSKDL TLKMGSALFV
KKELQLQANF LGNVKRLYEA EVFSTDFSNP SIAQARINSH VKKKTQGKVV DIIQGLDLLT
AMVLVNHIFF KAKWEKPFHP EYTRKNFPFL VGEQVTVHVP MMHQKEQFAF GVDTELNCFV
LQMDYKGDAV AFFVLPSKGK MRQLEQALSA RTLRKWSHSL QKRWIEVFIP RFSISASYNL
ETILPKMGIQ NVFDKNADFS GIAKRDSLQV SKVS*

mutated AA sequence

speed

1.08 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

mutation t@sting

Prediction

polymorphism

Problems