MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000378043
Querying Taster for transcript #2: ENST00000534553
Querying Taster for transcript #3: ENST00000449131
Querying Taster for transcript #4: ENST00000435278
Querying Taster for transcript #5: ENST00000378042
Querying Taster for transcript #6: ENST00000301774
MT speed 4.09 s - this script 4.987484 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BEST1	disease_causing_automatic	0.958095929524351	simple_aae			0	R47H	single base exchange	rs28940278		show file
BEST1	disease_causing_automatic	0.958095929524351	simple_aae			0	R47H	single base exchange	rs28940278		show file
BEST1	disease_causing_automatic	1	without_aae			0		single base exchange	rs28940278		show file
BEST1	disease_causing_automatic	1	without_aae			0		single base exchange	rs28940278		show file
BEST1	disease_causing_automatic	1	without_aae			0		single base exchange	rs28940278		show file
BEST1	disease_causing_automatic	1	without_aae			0		single base exchange	rs28940278		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.958095929524351 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/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.140G>A
cDNA.783G>A
g.2126G>A

AA changes

R47H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs28940278

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

known disease mutation: rs2738 (pathogenic for Vitelliform macular dystrophy type 2|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM001378)

known disease mutation at this position, please check HGMD for details (HGMD ID CM001378)
known disease mutation at this position, please check HGMD for details (HGMD ID CM001378)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000003756

Mmulatta

all identical

ENSMMUG00000015147

Fcatus

no alignment

ENSFCAG00000007380

n/a

Mmusculus

all identical

ENSMUSG00000037418

Ggallus

not conserved

ENSGALG00000007217

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000078331

Dmelanogaster

not conserved

FBgn0040238

Celegans

not conserved

C01B12.3

Xtropicalis

not conserved

ENSXETG00000006740

protein features

start (aa)	end (aa)	feature	details
47	70	TOPO_DOM	Extracellular (Potential).	lost

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

140

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

783

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

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGCTGGCCC

altered cDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGCTGGCCC

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 LCYYIIHFIY 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*

speed

0.72 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: 0.958095929524351 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/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.140G>A
cDNA.253G>A
g.2126G>A

AA changes

R47H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs28940278

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

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000003756

Mmulatta

all identical

ENSMMUG00000015147

Fcatus

no alignment

ENSFCAG00000007380

n/a

Mmusculus

all identical

ENSMUSG00000037418

Ggallus

not conserved

ENSGALG00000007217

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000078331

Dmelanogaster

not conserved

FBgn0040238

Celegans

not conserved

C01B12.3

Xtropicalis

not conserved

ENSXETG00000006740

protein features

start (aa)	end (aa)	feature	details
47	70	TOPO_DOM	Extracellular (Potential).	lost

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

140

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

253

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

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGCTGGCCC

altered cDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGCTGGCCC

wildtype AA sequence

mutated AA sequence

speed

0.83 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000534553

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2126G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28940278

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

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

1519

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

577 / 577

chromosome

strand

last intron/exon boundary

740

theoretical NMD boundary in CDS

113

length of CDS

168

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)

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSLVSGFVEG KDEQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAA*

mutated AA sequence

N/A

speed

0.60 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000449131

Genbank transcript ID

NM_001139443

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2126G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28940278

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

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

1519

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

87 / 87

chromosome

strand

last intron/exon boundary

1007

theoretical NMD boundary in CDS

870

length of CDS

1815

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)

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

N/A

speed

0.69 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000378042

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.720G>A
g.2126G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28940278

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

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

761 / 761

chromosome

strand

last intron/exon boundary

2239

theoretical NMD boundary in CDS

1428

length of CDS

1497

coding sequence (CDS) position

N/A

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

720

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

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGCTGGCCC

altered cDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGCTGGCCC

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

N/A

speed

0.62 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM001378)
known disease mutation: rs2738 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:61719418G>AN/A show variant in all transcripts IGV

HGNC symbol

BEST1

Ensembl transcript ID

ENST00000301774

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2126G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28940278

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

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.914	1
	4.354	0.999
(flanking)	0.066	0.084

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
Acc marginally increased	2132	wt: 0.7968 / mu: 0.8027 (marginal change - not scored)	wt: CTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGG mu: CTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCAGG	ttat\|TTAT
Acc marginally increased	2130	wt: 0.4583 / mu: 0.4755 (marginal change - not scored)	wt: TGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCA mu: TGCTACTACATCATCCACTTTATTTATAGGTAAAGCTGGCA	cttt\|ATTT

distance from splice site

1519

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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)

N/A

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

2126

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

61719418

original gDNA sequence snippet

GCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCT

altered gDNA sequence snippet

GCTCTGCTACTACATCATCCACTTTATTTATAGGTAAAGCT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

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

0.63 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

Problems