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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000347302
Querying Taster for transcript #2: ENST00000254182
Querying Taster for transcript #3: ENST00000391703
Querying Taster for transcript #4: ENST00000299871
Querying Taster for transcript #5: ENST00000240731
Querying Taster for transcript #6: ENST00000420680
Querying Taster for transcript #7: ENST00000544273
Querying Taster for transcript #8: ENST00000541801
MT speed 6.18 s - this script 6.77567 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A314V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A305V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A379V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A327V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A318V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A326V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	1.99840144432528e-15	simple_aae		affected		A305V	single base exchange	rs11879465		show file
ZNF211	polymorphism_automatic	3.99680288865056e-15	simple_aae		affected		A253V	single base exchange	rs11879465		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000347302

Genbank transcript ID

NM_198855

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.941C>T
cDNA.1120C>T
g.11035C>T

AA changes

A314V Score: 64 explain score(s)

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

314

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

314

mutated

not conserved

314

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
313	335	ZN_FING	C2H2-type 4.	lost
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1695 / 1695

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

565 / 565

position of stopcodon in wt / mu cDNA

1874 / 1874

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

180 / 180

chromosome

strand

last intron/exon boundary

397

theoretical NMD boundary in CDS

167

length of CDS

1695

coding sequence (CDS) position

941

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

1120

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS GSVTFEDVAV YFSWEEWDLL DEAQKHLYFD
VMLENFALTS SLGCWCGVEH EETPSEQRIS GERVPQFRTS KEGSSSQNAD SCEICCLVLR
DILHLAEHQG TNCGQKLHTC GKQFYISANL QQHQRQHITE APFRSYVDTA SFTQSCIVHV
SEKPFTCREI RKDFLANMRF LHQDATQTGE KPNNSNKCAV AFYSGKSHHN WGKCSKAFSH
IDTLVQDQRI LTREGLFECS KCGKACTRRC NLIQHQKVHS EERPYECNEC GKFFTYYSSF
IIHQRVHTGE RPYACPECGK SFSQIYSLNS HRKVHTGERP YECGECGKSF SQRSNLMQHR
RVHTGERPYE CSECGKSFSQ NFSLIYHQRV HTGERPHECN ECGKSFSRSS SLIHHRRLHT
GERPYECSKC GKSFKQSSSF SSHRKVHTGE RPYVCGECGK SFSHSSNLKN HQRVHTGERP
VECSECSKSF SCKSNLIKHL RVHTGERPYE CSECGKSFSQ SSSLIQHRRV HTGKRPYQCS
QCGKSFGCKS VLIQHQRVHI GEKP*

mutated AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS GSVTFEDVAV YFSWEEWDLL DEAQKHLYFD
VMLENFALTS SLGCWCGVEH EETPSEQRIS GERVPQFRTS KEGSSSQNAD SCEICCLVLR
DILHLAEHQG TNCGQKLHTC GKQFYISANL QQHQRQHITE APFRSYVDTA SFTQSCIVHV
SEKPFTCREI RKDFLANMRF LHQDATQTGE KPNNSNKCAV AFYSGKSHHN WGKCSKAFSH
IDTLVQDQRI LTREGLFECS KCGKACTRRC NLIQHQKVHS EERPYECNEC GKFFTYYSSF
IIHQRVHTGE RPYVCPECGK SFSQIYSLNS HRKVHTGERP YECGECGKSF SQRSNLMQHR
RVHTGERPYE CSECGKSFSQ NFSLIYHQRV HTGERPHECN ECGKSFSRSS SLIHHRRLHT
GERPYECSKC GKSFKQSSSF SSHRKVHTGE RPYVCGECGK SFSHSSNLKN HQRVHTGERP
VECSECSKSF SCKSNLIKHL RVHTGERPYE CSECGKSFSQ SSSLIQHRRV HTGKRPYQCS
QCGKSFGCKS VLIQHQRVHI GEKP*

speed

1.12 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: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000254182

Genbank transcript ID

N/A

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.914C>T
cDNA.1107C>T
g.11035C>T

AA changes

A305V Score: 64 explain score(s)

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

305

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

305

mutated

not conserved

305

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
285	307	ZN_FING	C2H2-type 3.	lost
313	335	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1861 / 1861

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

194 / 194

chromosome

strand

last intron/exon boundary

384

theoretical NMD boundary in CDS

140

length of CDS

1668

coding sequence (CDS) position

914

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

1107

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MLENFALTSS LGLISSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYACPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*

mutated AA sequence

MLENFALTSS LGLISSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYVCPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000299871

Genbank transcript ID

NM_001265597

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1136C>T
cDNA.1267C>T
g.11035C>T

AA changes

A379V Score: 64 explain score(s)

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

379

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

379

mutated

not conserved

379

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
369	391	ZN_FING	C2H2-type 6.	lost
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1890 / 1890

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

630 / 630

position of stopcodon in wt / mu cDNA

2021 / 2021

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

132 / 132

chromosome

strand

last intron/exon boundary

544

theoretical NMD boundary in CDS

362

length of CDS

1890

coding sequence (CDS) position

1136

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

1267

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLISS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYAC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*

mutated AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLISS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYVC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000240731

Genbank transcript ID

NM_006385

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.980C>T
cDNA.1099C>T
g.11035C>T

AA changes

A327V Score: 64 explain score(s)

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

327

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

327

mutated

not conserved

327

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
313	335	ZN_FING	C2H2-type 4.	lost
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1734 / 1734

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

578 / 578

position of stopcodon in wt / mu cDNA

1853 / 1853

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

120 / 120

chromosome

strand

last intron/exon boundary

376

theoretical NMD boundary in CDS

206

length of CDS

1734

coding sequence (CDS) position

980

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

1099

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGCWCG VEHEETPSEQ RISGERVPQF RTSKEGSSSQ
NADSCEICCL VLRDILHLAE HQGTNCGQKL HTCGKQFYIS ANLQQHQRQH ITEAPFRSYV
DTASFTQSCI VHVSEKPFTC REIRKDFLAN MRFLHQDATQ TGEKPNNSNK CAVAFYSGKS
HHNWGKCSKA FSHIDTLVQD QRILTREGLF ECSKCGKACT RRCNLIQHQK VHSEERPYEC
NECGKFFTYY SSFIIHQRVH TGERPYACPE CGKSFSQIYS LNSHRKVHTG ERPYECGECG
KSFSQRSNLM QHRRVHTGER PYECSECGKS FSQNFSLIYH QRVHTGERPH ECNECGKSFS
RSSSLIHHRR LHTGERPYEC SKCGKSFKQS SSFSSHRKVH TGERPYVCGE CGKSFSHSSN
LKNHQRVHTG ERPVECSECS KSFSCKSNLI KHLRVHTGER PYECSECGKS FSQSSSLIQH
RRVHTGKRPY QCSQCGKSFG CKSVLIQHQR VHIGEKP*

mutated AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGCWCG VEHEETPSEQ RISGERVPQF RTSKEGSSSQ
NADSCEICCL VLRDILHLAE HQGTNCGQKL HTCGKQFYIS ANLQQHQRQH ITEAPFRSYV
DTASFTQSCI VHVSEKPFTC REIRKDFLAN MRFLHQDATQ TGEKPNNSNK CAVAFYSGKS
HHNWGKCSKA FSHIDTLVQD QRILTREGLF ECSKCGKACT RRCNLIQHQK VHSEERPYEC
NECGKFFTYY SSFIIHQRVH TGERPYVCPE CGKSFSQIYS LNSHRKVHTG ERPYECGECG
KSFSQRSNLM QHRRVHTGER PYECSECGKS FSQNFSLIYH QRVHTGERPH ECNECGKSFS
RSSSLIHHRR LHTGERPYEC SKCGKSFKQS SSFSSHRKVH TGERPYVCGE CGKSFSHSSN
LKNHQRVHTG ERPVECSECS KSFSCKSNLI KHLRVHTGER PYECSECGKS FSQSSSLIQH
RRVHTGKRPY QCSQCGKSFG CKSVLIQHQR VHIGEKP*

speed

1.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000420680

Genbank transcript ID

N/A

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.953C>T
cDNA.953C>T
g.11035C>T

AA changes

A318V Score: 64 explain score(s)

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

318

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

318

mutated

not conserved

318

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
313	335	ZN_FING	C2H2-type 4.	lost
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1707 / 1707

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

569 / 569

position of stopcodon in wt / mu cDNA

1707 / 1707

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

1 / 1

chromosome

strand

last intron/exon boundary

230

theoretical NMD boundary in CDS

179

length of CDS

1707

coding sequence (CDS) position

953

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

953

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MISAYCNLHL LGSSDSPASA SQVAGTTGMR HHAQGSVTFE DVAVYFSWEE WDLLDEAQKH
LYFDVMLENF ALTSSLGCWC GVEHEETPSE QRISGERVPQ FRTSKEGSSS QNADSCEICC
LVLRDILHLA EHQGTNCGQK LHTCGKQFYI SANLQQHQRQ HITEAPFRSY VDTASFTQSC
IVHVSEKPFT CREIRKDFLA NMRFLHQDAT QTGEKPNNSN KCAVAFYSGK SHHNWGKCSK
AFSHIDTLVQ DQRILTREGL FECSKCGKAC TRRCNLIQHQ KVHSEERPYE CNECGKFFTY
YSSFIIHQRV HTGERPYACP ECGKSFSQIY SLNSHRKVHT GERPYECGEC GKSFSQRSNL
MQHRRVHTGE RPYECSECGK SFSQNFSLIY HQRVHTGERP HECNECGKSF SRSSSLIHHR
RLHTGERPYE CSKCGKSFKQ SSSFSSHRKV HTGERPYVCG ECGKSFSHSS NLKNHQRVHT
GERPVECSEC SKSFSCKSNL IKHLRVHTGE RPYECSECGK SFSQSSSLIQ HRRVHTGKRP
YQCSQCGKSF GCKSVLIQHQ RVHIGEKP*

mutated AA sequence

MISAYCNLHL LGSSDSPASA SQVAGTTGMR HHAQGSVTFE DVAVYFSWEE WDLLDEAQKH
LYFDVMLENF ALTSSLGCWC GVEHEETPSE QRISGERVPQ FRTSKEGSSS QNADSCEICC
LVLRDILHLA EHQGTNCGQK LHTCGKQFYI SANLQQHQRQ HITEAPFRSY VDTASFTQSC
IVHVSEKPFT CREIRKDFLA NMRFLHQDAT QTGEKPNNSN KCAVAFYSGK SHHNWGKCSK
AFSHIDTLVQ DQRILTREGL FECSKCGKAC TRRCNLIQHQ KVHSEERPYE CNECGKFFTY
YSSFIIHQRV HTGERPYVCP ECGKSFSQIY SLNSHRKVHT GERPYECGEC GKSFSQRSNL
MQHRRVHTGE RPYECSECGK SFSQNFSLIY HQRVHTGERP HECNECGKSF SRSSSLIHHR
RLHTGERPYE CSKCGKSFKQ SSSFSSHRKV HTGERPYVCG ECGKSFSHSS NLKNHQRVHT
GERPVECSEC SKSFSCKSNL IKHLRVHTGE RPYECSECGK SFSQSSSLIQ HRRVHTGKRP
YQCSQCGKSF GCKSVLIQHQ RVHIGEKP*

speed

0.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000544273

Genbank transcript ID

N/A

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.977C>T
cDNA.1304C>T
g.11035C>T

AA changes

A326V Score: 64 explain score(s)

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

326

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

326

mutated

not conserved

326

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
313	335	ZN_FING	C2H2-type 4.	lost
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1731 / 1731

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

577 / 577

position of stopcodon in wt / mu cDNA

2058 / 2058

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

328 / 328

chromosome

strand

last intron/exon boundary

581

theoretical NMD boundary in CDS

203

length of CDS

1731

coding sequence (CDS) position

977

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

1304

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MRTLRQREVE YFSKATQLVR GSTKDRGAQV PIATEVLFKL TQGSVTFEDV AVYFSWEEWD
LLDEAQKHLY FDVMLENFAL TSSLGCWCGV EHEETPSEQR ISGERVPQFR TSKEGSSSQN
ADSCEICCLV LRDILHLAEH QGTNCGQKLH TCGKQFYISA NLQQHQRQHI TEAPFRSYVD
TASFTQSCIV HVSEKPFTCR EIRKDFLANM RFLHQDATQT GEKPNNSNKC AVAFYSGKSH
HNWGKCSKAF SHIDTLVQDQ RILTREGLFE CSKCGKACTR RCNLIQHQKV HSEERPYECN
ECGKFFTYYS SFIIHQRVHT GERPYACPEC GKSFSQIYSL NSHRKVHTGE RPYECGECGK
SFSQRSNLMQ HRRVHTGERP YECSECGKSF SQNFSLIYHQ RVHTGERPHE CNECGKSFSR
SSSLIHHRRL HTGERPYECS KCGKSFKQSS SFSSHRKVHT GERPYVCGEC GKSFSHSSNL
KNHQRVHTGE RPVECSECSK SFSCKSNLIK HLRVHTGERP YECSECGKSF SQSSSLIQHR
RVHTGKRPYQ CSQCGKSFGC KSVLIQHQRV HIGEKP*

mutated AA sequence

MRTLRQREVE YFSKATQLVR GSTKDRGAQV PIATEVLFKL TQGSVTFEDV AVYFSWEEWD
LLDEAQKHLY FDVMLENFAL TSSLGCWCGV EHEETPSEQR ISGERVPQFR TSKEGSSSQN
ADSCEICCLV LRDILHLAEH QGTNCGQKLH TCGKQFYISA NLQQHQRQHI TEAPFRSYVD
TASFTQSCIV HVSEKPFTCR EIRKDFLANM RFLHQDATQT GEKPNNSNKC AVAFYSGKSH
HNWGKCSKAF SHIDTLVQDQ RILTREGLFE CSKCGKACTR RCNLIQHQKV HSEERPYECN
ECGKFFTYYS SFIIHQRVHT GERPYVCPEC GKSFSQIYSL NSHRKVHTGE RPYECGECGK
SFSQRSNLMQ HRRVHTGERP YECSECGKSF SQNFSLIYHQ RVHTGERPHE CNECGKSFSR
SSSLIHHRRL HTGERPYECS KCGKSFKQSS SFSSHRKVHT GERPYVCGEC GKSFSHSSNL
KNHQRVHTGE RPVECSECSK SFSCKSNLIK HLRVHTGERP YECSECGKSF SQSSSLIQHR
RVHTGKRPYQ CSQCGKSFGC KSVLIQHQRV HIGEKP*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000541801

Genbank transcript ID

NM_001265598

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.914C>T
cDNA.1055C>T
g.11035C>T

AA changes

A305V Score: 64 explain score(s)

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

305

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

305

mutated

not conserved

305

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
285	307	ZN_FING	C2H2-type 3.	lost
313	335	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1809 / 1809

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

142 / 142

chromosome

strand

last intron/exon boundary

332

theoretical NMD boundary in CDS

140

length of CDS

1668

coding sequence (CDS) position

914

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

1055

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

mutated AA sequence

MLENFALTSS LGLISSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYVCPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999996 (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)

chr19:58152795C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000391703

Genbank transcript ID

NM_001265600

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.758C>T
cDNA.899C>T
g.11035C>T

AA changes

A253V Score: 64 explain score(s)

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

253

frameshift

known variant

Reference ID: rs11879465

database	homozygous (T/T)	heterozygous	allele carriers
1000G	129	814	943
ExAC	2160	17440	19600

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.457	0
	-1.568	0
(flanking)	-0.192	0.015

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	11028	0.76	mu: AAAGGCCTTATGTGT	AGGC\|ctta

distance from splice site

724

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

253

mutated

not conserved

253

Ptroglodytes

not conserved

ENSPTRG00000011565

327

Mmulatta

not conserved

ENSMMUG00000005333

359

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
257	279	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
276	276	CONFLICT	Q -> L (in Ref. 1; BAG59491).	might get lost (downstream of altered splice site)
285	307	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
313	335	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
341	363	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
369	391	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
397	419	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
425	447	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
453	475	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
481	503	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
509	531	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
537	559	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1512 / 1512

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

504 / 504

position of stopcodon in wt / mu cDNA

1653 / 1653

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

142 / 142

chromosome

strand

last intron/exon boundary

176

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1512

coding sequence (CDS) position

758

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

899

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

11035

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

58152795

original gDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered gDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

original cDNA sequence snippet

TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT

altered cDNA sequence snippet

TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT

wildtype AA sequence

MLENFALTSS LGCWCGVEHE ETPSEQRISG ERVPQFRTSK EGSSSQNADS CEICCLVLRD
ILHLAEHQGT NCGQKLHTCG KQFYISANLQ QHQRQHITEA PFRSYVDTAS FTQSCIVHVS
EKPFTCREIR KDFLANMRFL HQDATQTGEK PNNSNKCAVA FYSGKSHHNW GKCSKAFSHI
DTLVQDQRIL TREGLFECSK CGKACTRRCN LIQHQKVHSE ERPYECNECG KFFTYYSSFI
IHQRVHTGER PYACPECGKS FSQIYSLNSH RKVHTGERPY ECGECGKSFS QRSNLMQHRR
VHTGERPYEC SECGKSFSQN FSLIYHQRVH TGERPHECNE CGKSFSRSSS LIHHRRLHTG
ERPYECSKCG KSFKQSSSFS SHRKVHTGER PYVCGECGKS FSHSSNLKNH QRVHTGERPV
ECSECSKSFS CKSNLIKHLR VHTGERPYEC SECGKSFSQS SSLIQHRRVH TGKRPYQCSQ
CGKSFGCKSV LIQHQRVHIG EKP*

mutated AA sequence

MLENFALTSS LGCWCGVEHE ETPSEQRISG ERVPQFRTSK EGSSSQNADS CEICCLVLRD
ILHLAEHQGT NCGQKLHTCG KQFYISANLQ QHQRQHITEA PFRSYVDTAS FTQSCIVHVS
EKPFTCREIR KDFLANMRFL HQDATQTGEK PNNSNKCAVA FYSGKSHHNW GKCSKAFSHI
DTLVQDQRIL TREGLFECSK CGKACTRRCN LIQHQKVHSE ERPYECNECG KFFTYYSSFI
IHQRVHTGER PYVCPECGKS FSQIYSLNSH RKVHTGERPY ECGECGKSFS QRSNLMQHRR
VHTGERPYEC SECGKSFSQN FSLIYHQRVH TGERPHECNE CGKSFSRSSS LIHHRRLHTG
ERPYECSKCG KSFKQSSSFS SHRKVHTGER PYVCGECGKS FSHSSNLKNH QRVHTGERPV
ECSECSKSFS CKSNLIKHLR VHTGERPYEC SECGKSFSQS SSLIQHRRVH TGKRPYQCSQ
CGKSFGCKSV LIQHQRVHIG EKP*

speed

1.11 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems