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 5.548729 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SERPINA9	polymorphism_automatic	0.575838358405623	simple_aae		affected		Q13E	single base exchange	rs12879019		show file
SERPINA9	polymorphism_automatic	0.854495882005425	simple_aae		affected		Q111E	single base exchange	rs12879019		show file
SERPINA9	polymorphism_automatic	0.854495882005425	simple_aae		affected		Q93E	single base exchange	rs12879019		show file
SERPINA9	polymorphism_automatic	0.854495882005425	simple_aae		affected		Q75E	single base exchange	rs12879019		show file
SERPINA9	polymorphism_automatic	1	without_aae		affected			single base exchange	rs12879019		show file
SERPINA9	polymorphism_automatic	1	without_aae		affected			single base exchange	rs12879019		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.424161641594377 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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.37C>G
cDNA.167C>G
g.10126C>G

AA changes

Q13E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

104

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000006681

Mmulatta

all identical

ENSMMUG00000012356

Fcatus

all identical

ENSFCAG00000010234

Mmusculus

all identical

ENSMUSG00000058260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	23	SIGNAL	Potential.	lost
23	23	CONFLICT	P -> L (in Ref. 1; AAO65242/AAO65243 and 3; AAQ89063).	might get lost (downstream of altered splice site)
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

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

167

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

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered cDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

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 KTEILQGLGF 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*

speed

1.25 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: 0.145504117994575 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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.331C>G
cDNA.406C>G
g.10126C>G

AA changes

Q111E Score: 29 explain score(s)

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

111

frameshift

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

294

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

all conserved

111

Ptroglodytes

all identical

ENSPTRG00000006681

Mmulatta

all identical

ENSMMUG00000012356

Fcatus

all identical

ENSFCAG00000010234

Mmusculus

all identical

ENSMUSG00000058260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

331

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

406

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

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered cDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

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 EILQGLGFNL
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*

speed

1.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.145504117994575 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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.277C>G
cDNA.356C>G
g.10126C>G

AA changes

Q93E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

294

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000006681

Mmulatta

all identical

ENSMMUG00000012356

Fcatus

all identical

ENSFCAG00000010234

Mmusculus

all identical

ENSMUSG00000058260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	lost
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

277

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

356

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

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered cDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

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 KTEILQGLGF 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*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.145504117994575 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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.223C>G
cDNA.302C>G
g.10126C>G

AA changes

Q75E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

104

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000006681

Mmulatta

all identical

ENSMMUG00000012356

Fcatus

all identical

ENSFCAG00000010234

Mmusculus

all identical

ENSMUSG00000058260

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

223

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

302

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

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered cDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

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

MRSAGGRGEI KVRRELQPSK QVSGLTNHAR TGQEKRNLQR LVLETPSQNI FFSPVSVSTS
LAMLSLGAHS VTKTEILQGL 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*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.64433863604611e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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

intron

DNA changes

g.10126C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

40 / 40

chromosome

strand

-1

last intron/exon boundary

844

theoretical NMD boundary in CDS

754

length of CDS

1008

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)

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

N/A

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.64433863604611e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/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

intron

DNA changes

g.10126C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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

splice sites

splice site change before start ATG (at aa -5) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor gained	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	23	SIGNAL	Potential.	might get lost (downstream of altered splice site)
23	23	CONFLICT	P -> L (in Ref. 1; AAO65242/AAO65243 and 3; AAQ89063).	might get lost (downstream of altered splice site)
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

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

226 / 226

chromosome

strand

-1

last intron/exon boundary

883

theoretical NMD boundary in CDS

607

length of CDS

861

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)

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

N/A

speed

0.76 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