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: ENST00000253426
Querying Taster for transcript #2: ENST00000330997
Querying Taster for transcript #3: ENST00000544719
Querying Taster for transcript #4: ENST00000591679
MT speed 3.13 s - this script 4.557519 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF285	polymorphism_automatic	0.000121230919545967	simple_aae		affected		R543G	single base exchange	rs12610859		show file
ZNF285	polymorphism_automatic	0.000223554709685048	simple_aae		affected		R536G	single base exchange	rs12610859		show file
ZNF285	polymorphism_automatic	0.000223554709685048	simple_aae		affected		R536G	single base exchange	rs12610859		show file
ZNF112	polymorphism_automatic	1	without_aae		affected			single base exchange	rs12610859		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999878769080454 (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)

chr19:44890801T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF285

Ensembl transcript ID

ENST00000591679

Genbank transcript ID

N/A

UniProt peptide

Q96NJ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1627A>G
cDNA.1678A>G
g.14974A>G

AA changes

R543G Score: 125 explain score(s)

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

543

frameshift

known variant

Reference ID: rs12610859

database	homozygous (C/C)	heterozygous	allele carriers
1000G	547	1074	1621
ExAC	18580	-4393	14187

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.367	1
	2.45	0.983
(flanking)	-3.181	0.081

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	14971	wt: 0.9576 / mu: 0.9601 (marginal change - not scored)	wt: TCCACACAAGAGAGA mu: TCCACACAGGAGAGA	CACA\|caag
Donor increased	14973	wt: 0.64 / mu: 0.97	wt: CACACAAGAGAGAGG mu: CACACAGGAGAGAGG	CACA\|agag

distance from splice site

711

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

543

mutated

not conserved

543

Ptroglodytes

not conserved

ENSPTRG00000012475

559

Mmulatta

not conserved

ENSMMUG00000012804

536

Fcatus

no homologue

Mmusculus

no homologue

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
540	562	ZN_FING	C2H2-type 11.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

1845 / 1845

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

52 / 52

chromosome

strand

-1

last intron/exon boundary

215

theoretical NMD boundary in CDS

113

length of CDS

1794

coding sequence (CDS) position

1627

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

1678

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

14974

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

44890801

original gDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered gDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

original cDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered cDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

wildtype AA sequence

MIKFQIQGIH VQERVTFKDV AVVFTKEELA LLDKAQINLY QDVMLENFRN LMLVRDGIKN
NILNLQAKGL SYLSQEVLHC WQIWKQRIRD LTVSQDYIVN LQEECSPHLE DVSLSEEWAG
ISLQISENEN YVVNAIIKNQ DITAWQSLTQ VLTPESWRKA NIMTEPQNSQ GRYKGIYMEE
KLYRRAQHDD SLSWTSCDHH ESQECKGEDP GRHPNCGKNL GMKSTVEKRN AAHVLPQPFP
CNNCGVAFAD DTDPHVHHST HLGEKSYKCD QYGKNFSQSQ DLIVHCKTHS GKTPYEFHEW
PMGCKQSSDL PRYQKVSSGD KPYKCKECGK GFRRSSSLHN HHRVHTGEMP YKCDECGKGF
GFRSLLCIHQ GVHTGKKPYK CEECGKGFDQ SSNLLVHQRV HTGEKPYKCS ECGKCFSSSS
VLQVHWRFHT GEKPYRCGEC GKGFSQCTHL HIHQRVHTGE KPYKCNVCGK DFAYSSVLHT
HQRVHTGEKP YKCEVCGKCF SYSSYFHLHQ RDHIREKPYK CDECGKGFSR NSDLNVHLRV
HTRERPYKCK ACGKGFSRNS YLLAHQRVHI DETQYTHCER GKDLLTHQRL HEQRETL*

mutated AA sequence

MIKFQIQGIH VQERVTFKDV AVVFTKEELA LLDKAQINLY QDVMLENFRN LMLVRDGIKN
NILNLQAKGL SYLSQEVLHC WQIWKQRIRD LTVSQDYIVN LQEECSPHLE DVSLSEEWAG
ISLQISENEN YVVNAIIKNQ DITAWQSLTQ VLTPESWRKA NIMTEPQNSQ GRYKGIYMEE
KLYRRAQHDD SLSWTSCDHH ESQECKGEDP GRHPNCGKNL GMKSTVEKRN AAHVLPQPFP
CNNCGVAFAD DTDPHVHHST HLGEKSYKCD QYGKNFSQSQ DLIVHCKTHS GKTPYEFHEW
PMGCKQSSDL PRYQKVSSGD KPYKCKECGK GFRRSSSLHN HHRVHTGEMP YKCDECGKGF
GFRSLLCIHQ GVHTGKKPYK CEECGKGFDQ SSNLLVHQRV HTGEKPYKCS ECGKCFSSSS
VLQVHWRFHT GEKPYRCGEC GKGFSQCTHL HIHQRVHTGE KPYKCNVCGK DFAYSSVLHT
HQRVHTGEKP YKCEVCGKCF SYSSYFHLHQ RDHIREKPYK CDECGKGFSR NSDLNVHLRV
HTGERPYKCK ACGKGFSRNS YLLAHQRVHI DETQYTHCER GKDLLTHQRL HEQRETL*

speed

0.95 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: 0.999776445290315 (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)

chr19:44890801T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF285

Ensembl transcript ID

ENST00000330997

Genbank transcript ID

NM_152354

UniProt peptide

Q96NJ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1606A>G
cDNA.1671A>G
g.14974A>G

AA changes

R536G Score: 125 explain score(s)

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

536

frameshift

known variant

Reference ID: rs12610859

database	homozygous (C/C)	heterozygous	allele carriers
1000G	547	1074	1621
ExAC	18580	-4393	14187

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.367	1
	2.45	0.983
(flanking)	-3.181	0.081

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	14971	wt: 0.9576 / mu: 0.9601 (marginal change - not scored)	wt: TCCACACAAGAGAGA mu: TCCACACAGGAGAGA	CACA\|caag
Donor increased	14973	wt: 0.64 / mu: 0.97	wt: CACACAAGAGAGAGG mu: CACACAGGAGAGAGG	CACA\|agag

distance from splice site

1464

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

536

mutated

not conserved

536

Ptroglodytes

not conserved

ENSPTRG00000012475

559

Mmulatta

not conserved

ENSMMUG00000012804

536

Fcatus

no homologue

Mmusculus

no homologue

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
540	562	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1773 / 1773

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

591 / 591

position of stopcodon in wt / mu cDNA

1838 / 1838

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

66 / 66

chromosome

strand

-1

last intron/exon boundary

208

theoretical NMD boundary in CDS

length of CDS

1773

coding sequence (CDS) position

1606

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

1671

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

14974

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

44890801

original gDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered gDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

original cDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered cDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

wildtype AA sequence

MIKFQERVTF KDVAVVFTKE ELALLDKAQI NLYQDVMLEN FRNLMLVRDG IKNNILNLQA
KGLSYLSQEV LHCWQIWKQR IRDLTVSQDY IVNLQEECSP HLEDVSLSEE WAGISLQISE
NENYVVNAII KNQDITAWQS LTQVLTPESW RKANIMTEPQ NSQGRYKGIY MEEKLYRRAQ
HDDSLSWTSC DHHESQECKG EDPGRHPNCG KNLGMKSTVE KRNAAHVLPQ PFPCNNCGVA
FADDTDPHVH HSTHLGEKSY KCDQYGKNFS QSQDLIVHCK THSGKTPYEF HEWPMGCKQS
SDLPRYQKVS SGDKPYKCKE CGKGFRRSSS LHNHHRVHTG EMPYKCDECG KGFGFRSLLC
IHQGVHTGKK PYKCEECGKG FDQSSNLLVH QRVHTGEKPY KCSECGKCFS SSSVLQVHWR
FHTGEKPYRC GECGKGFSQC THLHIHQRVH TGEKPYKCNV CGKDFAYSSV LHTHQRVHTG
EKPYKCEVCG KCFSYSSYFH LHQRDHIREK PYKCDECGKG FSRNSDLNVH LRVHTRERPY
KCKACGKGFS RNSYLLAHQR VHIDETQYTH CERGKDLLTH QRLHEQRETL *

mutated AA sequence

MIKFQERVTF KDVAVVFTKE ELALLDKAQI NLYQDVMLEN FRNLMLVRDG IKNNILNLQA
KGLSYLSQEV LHCWQIWKQR IRDLTVSQDY IVNLQEECSP HLEDVSLSEE WAGISLQISE
NENYVVNAII KNQDITAWQS LTQVLTPESW RKANIMTEPQ NSQGRYKGIY MEEKLYRRAQ
HDDSLSWTSC DHHESQECKG EDPGRHPNCG KNLGMKSTVE KRNAAHVLPQ PFPCNNCGVA
FADDTDPHVH HSTHLGEKSY KCDQYGKNFS QSQDLIVHCK THSGKTPYEF HEWPMGCKQS
SDLPRYQKVS SGDKPYKCKE CGKGFRRSSS LHNHHRVHTG EMPYKCDECG KGFGFRSLLC
IHQGVHTGKK PYKCEECGKG FDQSSNLLVH QRVHTGEKPY KCSECGKCFS SSSVLQVHWR
FHTGEKPYRC GECGKGFSQC THLHIHQRVH TGEKPYKCNV CGKDFAYSSV LHTHQRVHTG
EKPYKCEVCG KCFSYSSYFH LHQRDHIREK PYKCDECGKG FSRNSDLNVH LRVHTGERPY
KCKACGKGFS RNSYLLAHQR VHIDETQYTH CERGKDLLTH QRLHEQRETL *

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999776445290315 (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)

chr19:44890801T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF285

Ensembl transcript ID

ENST00000544719

Genbank transcript ID

N/A

UniProt peptide

Q96NJ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1606A>G
cDNA.1803A>G
g.14974A>G

AA changes

R536G Score: 125 explain score(s)

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

536

frameshift

known variant

Reference ID: rs12610859

database	homozygous (C/C)	heterozygous	allele carriers
1000G	547	1074	1621
ExAC	18580	-4393	14187

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.367	1
	2.45	0.983
(flanking)	-3.181	0.081

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	14971	wt: 0.9576 / mu: 0.9601 (marginal change - not scored)	wt: TCCACACAAGAGAGA mu: TCCACACAGGAGAGA	CACA\|caag
Donor increased	14973	wt: 0.64 / mu: 0.97	wt: CACACAAGAGAGAGG mu: CACACAGGAGAGAGG	CACA\|agag

distance from splice site

991

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

536

mutated

not conserved

536

Ptroglodytes

not conserved

ENSPTRG00000012475

559

Mmulatta

not conserved

ENSMMUG00000012804

536

Fcatus

no homologue

Mmusculus

no homologue

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
540	562	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1773 / 1773

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

591 / 591

position of stopcodon in wt / mu cDNA

1970 / 1970

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

198 / 198

chromosome

strand

-1

last intron/exon boundary

340

theoretical NMD boundary in CDS

length of CDS

1773

coding sequence (CDS) position

1606

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

1803

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

14974

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

44890801

original gDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered gDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

original cDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered cDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

wildtype AA sequence

mutated AA sequence

MIKFQERVTF KDVAVVFTKE ELALLDKAQI NLYQDVMLEN FRNLMLVRDG IKNNILNLQA
KGLSYLSQEV LHCWQIWKQR IRDLTVSQDY IVNLQEECSP HLEDVSLSEE WAGISLQISE
NENYVVNAII KNQDITAWQS LTQVLTPESW RKANIMTEPQ NSQGRYKGIY MEEKLYRRAQ
HDDSLSWTSC DHHESQECKG EDPGRHPNCG KNLGMKSTVE KRNAAHVLPQ PFPCNNCGVA
FADDTDPHVH HSTHLGEKSY KCDQYGKNFS QSQDLIVHCK THSGKTPYEF HEWPMGCKQS
SDLPRYQKVS SGDKPYKCKE CGKGFRRSSS LHNHHRVHTG EMPYKCDECG KGFGFRSLLC
IHQGVHTGKK PYKCEECGKG FDQSSNLLVH QRVHTGEKPY KCSECGKCFS SSSVLQVHWR
FHTGEKPYRC GECGKGFSQC THLHIHQRVH TGEKPYKCNV CGKDFAYSSV LHTHQRVHTG
EKPYKCEVCG KCFSYSSYFH LHQRDHIREK PYKCDECGKG FSRNSDLNVH LRVHTGERPY
KCKACGKGFS RNSYLLAHQR VHIDETQYTH CERGKDLLTH QRLHEQRETL *

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.79441866755431e-21 (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)

chr19:44890801T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF112

Ensembl transcript ID

ENST00000253426

Genbank transcript ID

N/A

UniProt peptide

Q9UJU3

alteration type

single base exchange

alteration region

intron

DNA changes

g.14974A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12610859

database	homozygous (C/C)	heterozygous	allele carriers
1000G	547	1074	1621
ExAC	18580	-4393	14187

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.367	1
	2.45	0.983
(flanking)	-3.181	0.081

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	14971	wt: 0.9576 / mu: 0.9601 (marginal change - not scored)	wt: TCCACACAAGAGAGA mu: TCCACACAGGAGAGA	CACA\|caag
Donor increased	14973	wt: 0.64 / mu: 0.97	wt: CACACAAGAGAGAGG mu: CACACAGGAGAGAGG	CACA\|agag

distance from splice site

10563

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
3	5	CONFLICT	KFQ -> VSK (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
8	79	DOMAIN	KRAB.	might get lost (downstream of altered splice site)
113	113	CONFLICT	A -> T (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
143	143	CONFLICT	V -> A (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
222	222	CONFLICT	K -> E (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
258	280	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
261	261	CONFLICT	T -> S (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
392	392	CONFLICT	N -> S (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
443	465	ZN_FING	C2H2-type 2; degenerate.	might get lost (downstream of altered splice site)
471	493	ZN_FING	C2H2-type 3; degenerate.	might get lost (downstream of altered splice site)
497	519	ZN_FING	C2H2-type 4; degenerate.	might get lost (downstream of altered splice site)
525	547	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
553	575	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
581	603	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
609	631	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
637	659	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
665	687	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
693	715	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
721	743	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)
749	771	ZN_FING	C2H2-type 13.	might get lost (downstream of altered splice site)
777	799	ZN_FING	C2H2-type 14.	might get lost (downstream of altered splice site)
805	827	ZN_FING	C2H2-type 15.	might get lost (downstream of altered splice site)
813	813	CONFLICT	G -> A (in Ref. 1; AAF12816).	might get lost (downstream of altered splice site)
833	855	ZN_FING	C2H2-type 16.	might get lost (downstream of altered splice site)
861	883	ZN_FING	C2H2-type 17.	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

85 / 85

chromosome

strand

-1

last intron/exon boundary

320

theoretical NMD boundary in CDS

185

length of CDS

2739

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)

14974

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

44890801

original gDNA sequence snippet

TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT

altered gDNA sequence snippet

TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIKFQMVTFK DVAVVFTEEE LGLLDSVQRK LYRDVMLENF RNLLLVAHQP FKPDLISQLE
REEKLLMVET ETPRDGCSGR KNQQKMESIQ EVTVSYFSPK ELSSRQTWQQ SAGGLIRCQD
FLKVFQGKNS QLQEQGNSLG QVWAGIPVQI SEDKNYIFTH IGNGSNYIKS QGYPSWRAHH
SWRKMYLKES HNYQCRCQQI SMKNHFCKCD SVSWLSHHND KLEVHRKENY SCHDCGEDIM
KVSLLNQESI QTEEKPYPCT GYRKAFSNDS SSEVHQQFHL EGKPYTYSSC GKGCNYSSLL
HIHQNIERED DIENSHLKSY QRVHTEEKPC KCGEYGENFN HCSPLNTYEL IHTGEMSYRH
NIYEKAFSHS LDLNSIFRVH TRDEPHEYEE NENVFNQSSC LQVHQKIHTE EKLYTDIEYG
KSFICSSNLD IQHRVHMEEN SYNSEECGNG FSLASHFQDL QIVHTKEQPY KRYVCSNSFS
HNLYLQGHPK IHIGEKPRKE HGNGFNWSSK LKDHQRVHTG QKPYKCNICG KGFNHRSVLN
VHQRVHTGEK PYKCEECDKG FSRSSYLQAH QRVHTGEKPY KCEECGKGFS RNSYLQGHQR
VHTGEKPYKC EECGKGFSRS SHLQGHQRVH TGEKPFKCEE CGKGFSWSFN LQIHQRVHTG
EKPYKCEECG KGFSKASTLL AHQRVHTGEK PYQCDECGKS FSQRSYLQSH QSVHSGERPY
ICEVCGKGFS QRAYLQGHQR VHTRVKPYKC EMCGKGFSQS SRLEAHRRVH TGGKPYKCEV
CTKGFSESSR LQAHQRVHVE GRPYKCEQCG KGFSGYSSLQ AHHRVHTGEK PYKCEVCGKG
FSQRSNLQAH QRVHTGEKPY KCDACGKGFR WSSGLLIHQR VHSSDKFYKS EDYGKDYPSS
ENLHRNEDSV LF*

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

Problems