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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000378043
Querying Taster for transcript #2: ENST00000534553
Querying Taster for transcript #3: ENST00000449131
Querying Taster for transcript #4: ENST00000526988
Querying Taster for transcript #5: ENST00000435278
Querying Taster for transcript #6: ENST00000378042
Querying Taster for transcript #7: ENST00000301774
MT speed 7.4 s - this script 6.356894 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BEST1	disease_causing	0.999999998623993	simple_aae		affected		E119Q	single base exchange	rs1805142		show file
BEST1	disease_causing	0.999999998623993	simple_aae		affected		E59Q	single base exchange	rs1805142		show file
BEST1	disease_causing	0.999999998623993	simple_aae		affected		E119Q	single base exchange	rs1805142		show file
BEST1	disease_causing	0.999999998623993	simple_aae		affected		E59Q	single base exchange	rs1805142		show file
BEST1	disease_causing	0.999999999554665	simple_aae		affected		E13Q	single base exchange	rs1805142		show file
BEST1	disease_causing	0.999999999554665	simple_aae		affected		E13Q	single base exchange	rs1805142		show file
BEST1	disease_causing	1	without_aae		affected			single base exchange	rs1805142		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998623993 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000378043

Genbank transcript ID

NM_004183

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.355G>C
cDNA.998G>C
g.6005G>C

AA changes

E119Q Score: 29 explain score(s)

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

119

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation at this position, please check HGMD for details (HGMD ID CM993515)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993515)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993515)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

all conserved

119

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

not conserved

ENSFCAG00000007380

149

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
92	178	TOPO_DOM	Cytoplasmic (Potential).	lost
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1758 / 1758

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

586 / 586

position of stopcodon in wt / mu cDNA

2401 / 2401

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

644 / 644

chromosome

strand

last intron/exon boundary

2383

theoretical NMD boundary in CDS

1689

length of CDS

1758

coding sequence (CDS) position

355

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

998

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS*

mutated AA sequence

MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDQQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS*

speed

1.37 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

disease causing

Model: simple_aae, prob: 0.999999998623993 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000449131

Genbank transcript ID

NM_001139443

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.175G>C
cDNA.261G>C
g.6005G>C

AA changes

E59Q Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

not conserved

ENSFCAG00000007380

149

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
47	70	TOPO_DOM	Extracellular (Potential).	lost
71	91	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
92	178	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1815 / 1815

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

605 / 605

position of stopcodon in wt / mu cDNA

1901 / 1901

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

87 / 87

chromosome

strand

last intron/exon boundary

1007

theoretical NMD boundary in CDS

870

length of CDS

1815

coding sequence (CDS) position

175

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

261

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR SVLHLNQGHC IALCPTPASL
ALSLPFLHNF LGFHHCQSTL DLRPALAWGI YLATFTGILG KCSGPFLTSP WYHPEDFLGP
GEGR*

mutated AA sequence

MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDQQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR SVLHLNQGHC IALCPTPASL
ALSLPFLHNF LGFHHCQSTL DLRPALAWGI YLATFTGILG KCSGPFLTSP WYHPEDFLGP
GEGR*

speed

1.07 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998623993 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000435278

Genbank transcript ID

N/A

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.355G>C
cDNA.468G>C
g.6005G>C

AA changes

E119Q Score: 29 explain score(s)

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

119

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

all conserved

119

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

not conserved

ENSFCAG00000007380

149

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
92	178	TOPO_DOM	Cytoplasmic (Potential).	lost
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

813 / 813

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

271 / 271

position of stopcodon in wt / mu cDNA

926 / 926

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

114 / 114

chromosome

strand

last intron/exon boundary

828

theoretical NMD boundary in CDS

664

length of CDS

813

coding sequence (CDS) position

355

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

468

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

mutated AA sequence

speed

0.80 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998623993 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000378042

Genbank transcript ID

N/A

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.175G>C
cDNA.935G>C
g.6005G>C

AA changes

E59Q Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

not conserved

ENSFCAG00000007380

149

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
47	70	TOPO_DOM	Extracellular (Potential).	lost
71	91	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
92	178	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1497 / 1497

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

499 / 499

position of stopcodon in wt / mu cDNA

2257 / 2257

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

761 / 761

chromosome

strand

last intron/exon boundary

2239

theoretical NMD boundary in CDS

1428

length of CDS

1497

coding sequence (CDS) position

175

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

935

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV SLLAVDEMHQ
DLPRMEPDMY WNKPEPQPPY TAASAQFRRA SFMGSTFNIS LNKEEMEFQP NQEDEEDAHA
GIIGRFLGLQ SHDHHPPRAN SRTKLLWPKR ESLLHEGLPK NHKAAKQNVR GQEDNKAWKL
KAVDAFKSAP LYQRPGYYSA PQTPLSPTPM FFPLEPSAPS KLHSVTGIDT KDKSLKTVSS
GAKKSFELLS ESDGALMEHP EVSQVRRKTV EFNLTDMPEI PENHLKEPLE QSPTNIHTTL
KDHMDPYWAL ENRDEAHS*

mutated AA sequence

MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDQQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV SLLAVDEMHQ
DLPRMEPDMY WNKPEPQPPY TAASAQFRRA SFMGSTFNIS LNKEEMEFQP NQEDEEDAHA
GIIGRFLGLQ SHDHHPPRAN SRTKLLWPKR ESLLHEGLPK NHKAAKQNVR GQEDNKAWKL
KAVDAFKSAP LYQRPGYYSA PQTPLSPTPM FFPLEPSAPS KLHSVTGIDT KDKSLKTVSS
GAKKSFELLS ESDGALMEHP EVSQVRRKTV EFNLTDMPEI PENHLKEPLE QSPTNIHTTL
KDHMDPYWAL ENRDEAHS*

speed

0.70 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999554665 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000534553

Genbank transcript ID

N/A

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.37G>C
cDNA.613G>C
g.6005G>C

AA changes

E13Q Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

no alignment

ENSFCAG00000007380

n/a

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
1	25	TOPO_DOM	Cytoplasmic (Potential).	lost
26	46	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
47	70	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
71	91	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
92	178	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

168 / 168

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

56 / 56

position of stopcodon in wt / mu cDNA

744 / 744

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

577 / 577

chromosome

strand

last intron/exon boundary

740

theoretical NMD boundary in CDS

113

length of CDS

168

coding sequence (CDS) position

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

613

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MSLVSGFVEG KDEQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAA*

mutated AA sequence

MSLVSGFVEG KDQQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAA*

speed

1.48 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999554665 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000526988

Genbank transcript ID

N/A

UniProt peptide

O76090

alteration type

single base exchange

alteration region

CDS

DNA changes

c.37G>C
cDNA.198G>C
g.6005G>C

AA changes

E13Q Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000003756

119

Mmulatta

all identical

ENSMMUG00000015147

119

Fcatus

no alignment

ENSFCAG00000007380

n/a

Mmusculus

all identical

ENSMUSG00000037418

119

Ggallus

all identical

ENSGALG00000007217

119

Trubripes

no homologue

Drerio

all identical

ENSDARG00000078331

119

Dmelanogaster

all identical

FBgn0040238

120

Celegans

all identical

C01B12.3

119

Xtropicalis

all identical

ENSXETG00000006740

119

protein features

start (aa)	end (aa)	feature	details
1	25	TOPO_DOM	Cytoplasmic (Potential).	lost
26	46	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
47	70	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
71	91	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
92	178	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

990 / 990

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

330 / 330

position of stopcodon in wt / mu cDNA

1151 / 1151

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

162 / 162

chromosome

strand

last intron/exon boundary

1147

theoretical NMD boundary in CDS

935

length of CDS

990

coding sequence (CDS) position

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

198

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MSLVSGFVEG KDEQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAGFMTPA
EHKQLEKLSL PHNMFWVPWV WFANLSMKAW LGGRIRDPIL LQSLLNEMNT LRTQCGHLYA
YDWISIPLVY TQVVTVAVYS FFLTCLVGRQ FLNPAKAYPG HELDLVVPVF TFLQFFFYVG
WLKVGLSRAL LGWRHGQRGH GQQLPETRMQ CQERKVSRVE SSQAWWRTPV IPATREAEAG
ESLEPGRRRL WWQSSSSTPL ERMMMILRPT GLSTGICRCP CWLWMRCTRT CLGWSRTCTG
ISPSHSPPTQ LLPPSSVEPP LWAPPSTSA*

mutated AA sequence

MSLVSGFVEG KDQQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAGFMTPA
EHKQLEKLSL PHNMFWVPWV WFANLSMKAW LGGRIRDPIL LQSLLNEMNT LRTQCGHLYA
YDWISIPLVY TQVVTVAVYS FFLTCLVGRQ FLNPAKAYPG HELDLVVPVF TFLQFFFYVG
WLKVGLSRAL LGWRHGQRGH GQQLPETRMQ CQERKVSRVE SSQAWWRTPV IPATREAEAG
ESLEPGRRRL WWQSSSSTPL ERMMMILRPT GLSTGICRCP CWLWMRCTRT CLGWSRTCTG
ISPSHSPPTQ LLPPSSVEPP LWAPPSTSA*

speed

1.10 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known disease mutation at this position (HGMD CM993515)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61723297G>CN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000301774

Genbank transcript ID

N/A

UniProt peptide

O76090

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.613G>C
g.6005G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1805142

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.058	0.991
	5.769	1
(flanking)	4.763	1

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

splice sites

splice site change before start ATG (at aa -45) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	6006	wt: 0.9957 / mu: 0.9964 (marginal change - not scored)	wt: GGACGAGCAAGGCCG mu: GGACCAGCAAGGCCG	ACGA\|gcaa
Donor marginally increased	6005	wt: 0.9054 / mu: 0.9406 (marginal change - not scored)	wt: AGGACGAGCAAGGCC mu: AGGACCAGCAAGGCC	GACG\|agca
Donor marginally increased	5996	wt: 0.9600 / mu: 0.9852 (marginal change - not scored)	wt: TCGAAGGCAAGGACG mu: TCGAAGGCAAGGACC	GAAG\|gcaa
Donor gained	6010	0.40	mu: CAGCAAGGCCGGCTG	GCAA\|ggcc

distance from splice site

108

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	25	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
26	46	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
47	70	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
71	91	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
92	178	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
179	199	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
200	228	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
229	249	INTRAMEM	Potential.	might get lost (downstream of altered splice site)
250	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	585	TOPO_DOM	Cytoplasmic (Potential).	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

756 / 756

chromosome

strand

last intron/exon boundary

740

theoretical NMD boundary in CDS

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

length of CDS

879

coding sequence (CDS) position

N/A

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

613

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

6005

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

61723297

original gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered gDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

original cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGG

altered cDNA sequence snippet

GCTTCGTCGAAGGCAAGGACCAGCAAGGCCGGCTGCTGCGG

wildtype AA sequence

MEFQPNQEDE EDAHAGIIGR FLGLQSHDHH PPRANSRTKL LWPKRESLLH EGLPKNHKAA
KQNVRGQEDN KAWKLKAVDA FKSAPLYQRP GYYSAPQTPL SPTPMFFPLE PSAPSKLHSV
TGIDTKDKSL KTVSSGAKKS FELLSESDGA LMEHPEVSQV RRKTVEFNLT DMPEIPENHL
KEPLEQSPTN IHTTLKDHMD PYWALENRSV LHLNQGHCIA LCPTPASLAL SLPFLHNFLG
FHHCQSTLDL RPALAWGIYL ATFTGILGKC SGPFLTSPWY HPEDFLGPGE GR*

mutated AA sequence

N/A

speed

0.88 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems