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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000264914
Querying Taster for transcript #2: ENST00000396151
Querying Taster for transcript #3: ENST00000565165
MT speed 0 s - this script 4.686838 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ARSB	disease_causing	0.999999999987709	simple_aae		affected		L236P	single base exchange	rs118203940		show file
ARSB	disease_causing	0.999999999987709	simple_aae		affected		L236P	single base exchange	rs118203940		show file
ARSB	disease_causing	0.999999999987709	simple_aae		affected		L236P	single base exchange	rs118203940		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999987709 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920108)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:78251309A>GN/A show variant in all transcripts IGV

HGNC symbol

ARSB

Ensembl transcript ID

ENST00000264914

Genbank transcript ID

NM_000046

UniProt peptide

P15848

alteration type

single base exchange

alteration region

CDS

DNA changes

c.707T>C
cDNA.1244T>C
g.30602T>C

AA changes

L236P Score: 98 explain score(s)

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

236

frameshift

known variant

Reference ID: rs118203940
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM920108)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920108)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920108)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.509	0.89
	4.71	1
(flanking)	3.776	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
Acc marginally increased	30598	wt: 0.9535 / mu: 0.9587 (marginal change - not scored)	wt: CTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG mu: CTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTG	ctct\|ACCT
Acc marginally increased	30609	wt: 0.5181 / mu: 0.5455 (marginal change - not scored)	wt: CTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCCCT mu: CTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCCCT	tctc\|CAGT
Acc marginally increased	30594	wt: 0.9049 / mu: 0.9259 (marginal change - not scored)	wt: CTTTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTC mu: CTTTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTC	gttt\|CTCT
Acc increased	30596	wt: 0.43 / mu: 0.57	wt: TTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTG mu: TTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTG	ttct\|CTAC
Acc marginally increased	30597	wt: 0.7234 / mu: 0.7417 (marginal change - not scored)	wt: TCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGT mu: TCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGT	tctc\|TACC
Acc increased	30599	wt: 0.68 / mu: 0.77	wt: TTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGC mu: TTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGC	tcta\|CCTT
Acc marginally increased	30603	wt: 0.9643 / mu: 0.9676 (marginal change - not scored)	wt: CAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGA mu: CAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGA	cctt\|GCTC
Acc marginally increased	30607	wt: 0.9463 / mu: 0.9513 (marginal change - not scored)	wt: CTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCC mu: CTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCC	gctc\|TCCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

all identical

ENSPTRG00000017019

238

Mmulatta

all identical

ENSMMUG00000006792

237

Fcatus

no alignment

ENSFCAG00000011879

n/a

Mmusculus

all identical

ENSMUSG00000042082

237

Ggallus

all identical

ENSGALG00000004438

229

Trubripes

all conserved

ENSTRUG00000003412

216

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000542

230

protein features

start (aa)	end (aa)	feature	details
232	237	STRAND		lost
242	242	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
242	244	STRAND		might get lost (downstream of altered splice site)
249	251	HELIX		might get lost (downstream of altered splice site)
253	255	HELIX		might get lost (downstream of altered splice site)
261	286	HELIX		might get lost (downstream of altered splice site)
279	279	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
290	292	HELIX		might get lost (downstream of altered splice site)
291	291	CARBOHYD	N-linked (GlcNAc...) (Probable).	might get lost (downstream of altered splice site)
293	301	STRAND		might get lost (downstream of altered splice site)
300	300	METAL	Calcium.	might get lost (downstream of altered splice site)
301	301	METAL	Calcium.	might get lost (downstream of altered splice site)
305	307	HELIX		might get lost (downstream of altered splice site)
318	318	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
320	322	STRAND		might get lost (downstream of altered splice site)
323	326	HELIX		might get lost (downstream of altered splice site)
330	333	STRAND		might get lost (downstream of altered splice site)
341	344	STRAND		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
353	360	HELIX		might get lost (downstream of altered splice site)
366	366	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
377	382	HELIX		might get lost (downstream of altered splice site)
390	396	STRAND		might get lost (downstream of altered splice site)
405	405	DISULFID		might get lost (downstream of altered splice site)
408	410	CONFLICT	NSM -> SPC (in Ref. 1; AA sequence).	might get lost (downstream of altered splice site)
426	426	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
429	435	STRAND		might get lost (downstream of altered splice site)
438	443	STRAND		might get lost (downstream of altered splice site)
447	447	DISULFID		might get lost (downstream of altered splice site)
454	456	TURN		might get lost (downstream of altered splice site)
458	458	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
472	476	STRAND		might get lost (downstream of altered splice site)
477	479	TURN		might get lost (downstream of altered splice site)
488	490	TURN		might get lost (downstream of altered splice site)
492	507	HELIX		might get lost (downstream of altered splice site)
519	521	HELIX		might get lost (downstream of altered splice site)
521	521	DISULFID		might get lost (downstream of altered splice site)
524	526	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1602 / 1602

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

534 / 534

position of stopcodon in wt / mu cDNA

2139 / 2139

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

538 / 538

chromosome

strand

-1

last intron/exon boundary

1874

theoretical NMD boundary in CDS

1286

length of CDS

1602

coding sequence (CDS) position

707

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

1244

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

30602

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

78251309

original gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

original cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

wildtype AA sequence

MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*

mutated AA sequence

MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYPALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*

speed

1.33 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: 0.999999999987709 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920108)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:78251309A>GN/A show variant in all transcripts IGV

HGNC symbol

ARSB

Ensembl transcript ID

ENST00000396151

Genbank transcript ID

NM_198709

UniProt peptide

P15848

alteration type

single base exchange

alteration region

CDS

DNA changes

c.707T>C
cDNA.1206T>C
g.30602T>C

AA changes

L236P Score: 98 explain score(s)

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

236

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.509	0.89
	4.71	1
(flanking)	3.776	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
Acc marginally increased	30598	wt: 0.9535 / mu: 0.9587 (marginal change - not scored)	wt: CTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG mu: CTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTG	ctct\|ACCT
Acc marginally increased	30609	wt: 0.5181 / mu: 0.5455 (marginal change - not scored)	wt: CTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCCCT mu: CTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCCCT	tctc\|CAGT
Acc marginally increased	30594	wt: 0.9049 / mu: 0.9259 (marginal change - not scored)	wt: CTTTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTC mu: CTTTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTC	gttt\|CTCT
Acc increased	30596	wt: 0.43 / mu: 0.57	wt: TTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTG mu: TTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTG	ttct\|CTAC
Acc marginally increased	30597	wt: 0.7234 / mu: 0.7417 (marginal change - not scored)	wt: TCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGT mu: TCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGT	tctc\|TACC
Acc increased	30599	wt: 0.68 / mu: 0.77	wt: TTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGC mu: TTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGC	tcta\|CCTT
Acc marginally increased	30603	wt: 0.9643 / mu: 0.9676 (marginal change - not scored)	wt: CAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGA mu: CAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGA	cctt\|GCTC
Acc marginally increased	30607	wt: 0.9463 / mu: 0.9513 (marginal change - not scored)	wt: CTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCC mu: CTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCC	gctc\|TCCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

all identical

ENSPTRG00000017019

238

Mmulatta

all identical

ENSMMUG00000006792

237

Fcatus

no alignment

ENSFCAG00000011879

n/a

Mmusculus

all identical

ENSMUSG00000042082

237

Ggallus

all identical

ENSGALG00000004438

229

Trubripes

all conserved

ENSTRUG00000003412

216

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000542

230

protein features

start (aa)	end (aa)	feature	details
232	237	STRAND		lost
242	242	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
242	244	STRAND		might get lost (downstream of altered splice site)
249	251	HELIX		might get lost (downstream of altered splice site)
253	255	HELIX		might get lost (downstream of altered splice site)
261	286	HELIX		might get lost (downstream of altered splice site)
279	279	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
290	292	HELIX		might get lost (downstream of altered splice site)
291	291	CARBOHYD	N-linked (GlcNAc...) (Probable).	might get lost (downstream of altered splice site)
293	301	STRAND		might get lost (downstream of altered splice site)
300	300	METAL	Calcium.	might get lost (downstream of altered splice site)
301	301	METAL	Calcium.	might get lost (downstream of altered splice site)
305	307	HELIX		might get lost (downstream of altered splice site)
318	318	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
320	322	STRAND		might get lost (downstream of altered splice site)
323	326	HELIX		might get lost (downstream of altered splice site)
330	333	STRAND		might get lost (downstream of altered splice site)
341	344	STRAND		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
353	360	HELIX		might get lost (downstream of altered splice site)
366	366	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
377	382	HELIX		might get lost (downstream of altered splice site)
390	396	STRAND		might get lost (downstream of altered splice site)
405	405	DISULFID		might get lost (downstream of altered splice site)
408	410	CONFLICT	NSM -> SPC (in Ref. 1; AA sequence).	might get lost (downstream of altered splice site)
426	426	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
429	435	STRAND		might get lost (downstream of altered splice site)
438	443	STRAND		might get lost (downstream of altered splice site)
447	447	DISULFID		might get lost (downstream of altered splice site)
454	456	TURN		might get lost (downstream of altered splice site)
458	458	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
472	476	STRAND		might get lost (downstream of altered splice site)
477	479	TURN		might get lost (downstream of altered splice site)
488	490	TURN		might get lost (downstream of altered splice site)
492	507	HELIX		might get lost (downstream of altered splice site)
519	521	HELIX		might get lost (downstream of altered splice site)
521	521	DISULFID		might get lost (downstream of altered splice site)
524	526	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1242 / 1242

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

414 / 414

position of stopcodon in wt / mu cDNA

1741 / 1741

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

500 / 500

chromosome

strand

-1

last intron/exon boundary

1713

theoretical NMD boundary in CDS

1163

length of CDS

1242

coding sequence (CDS) position

707

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

1206

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

30602

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

78251309

original gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

original cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

wildtype AA sequence

mutated AA sequence

MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYPALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*

speed

0.94 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999987709 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920108)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:78251309A>GN/A show variant in all transcripts IGV

HGNC symbol

ARSB

Ensembl transcript ID

ENST00000565165

Genbank transcript ID

N/A

UniProt peptide

P15848

alteration type

single base exchange

alteration region

CDS

DNA changes

c.707T>C
cDNA.1206T>C
g.30602T>C

AA changes

L236P Score: 98 explain score(s)

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

236

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.509	0.89
	4.71	1
(flanking)	3.776	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
Acc marginally increased	30598	wt: 0.9535 / mu: 0.9587 (marginal change - not scored)	wt: CTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG mu: CTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTG	ctct\|ACCT
Acc marginally increased	30609	wt: 0.5181 / mu: 0.5455 (marginal change - not scored)	wt: CTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCCCT mu: CTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCCCT	tctc\|CAGT
Acc marginally increased	30594	wt: 0.9049 / mu: 0.9259 (marginal change - not scored)	wt: CTTTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTC mu: CTTTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTC	gttt\|CTCT
Acc increased	30596	wt: 0.43 / mu: 0.57	wt: TTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTG mu: TTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTG	ttct\|CTAC
Acc marginally increased	30597	wt: 0.7234 / mu: 0.7417 (marginal change - not scored)	wt: TCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGT mu: TCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGT	tctc\|TACC
Acc increased	30599	wt: 0.68 / mu: 0.77	wt: TTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGC mu: TTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGC	tcta\|CCTT
Acc marginally increased	30603	wt: 0.9643 / mu: 0.9676 (marginal change - not scored)	wt: CAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGA mu: CAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGA	cctt\|GCTC
Acc marginally increased	30607	wt: 0.9463 / mu: 0.9513 (marginal change - not scored)	wt: CTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCC mu: CTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCC	gctc\|TCCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

not conserved

236

Ptroglodytes

all identical

ENSPTRG00000017019

238

Mmulatta

all identical

ENSMMUG00000006792

237

Fcatus

no alignment

ENSFCAG00000011879

n/a

Mmusculus

all identical

ENSMUSG00000042082

237

Ggallus

all identical

ENSGALG00000004438

229

Trubripes

all conserved

ENSTRUG00000003412

216

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000000542

230

protein features

start (aa)	end (aa)	feature	details
232	237	STRAND		lost
242	242	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
242	244	STRAND		might get lost (downstream of altered splice site)
249	251	HELIX		might get lost (downstream of altered splice site)
253	255	HELIX		might get lost (downstream of altered splice site)
261	286	HELIX		might get lost (downstream of altered splice site)
279	279	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
290	292	HELIX		might get lost (downstream of altered splice site)
291	291	CARBOHYD	N-linked (GlcNAc...) (Probable).	might get lost (downstream of altered splice site)
293	301	STRAND		might get lost (downstream of altered splice site)
300	300	METAL	Calcium.	might get lost (downstream of altered splice site)
301	301	METAL	Calcium.	might get lost (downstream of altered splice site)
305	307	HELIX		might get lost (downstream of altered splice site)
318	318	BINDING	Substrate (By similarity).	might get lost (downstream of altered splice site)
320	322	STRAND		might get lost (downstream of altered splice site)
323	326	HELIX		might get lost (downstream of altered splice site)
330	333	STRAND		might get lost (downstream of altered splice site)
341	344	STRAND		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
353	360	HELIX		might get lost (downstream of altered splice site)
366	366	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
377	382	HELIX		might get lost (downstream of altered splice site)
390	396	STRAND		might get lost (downstream of altered splice site)
405	405	DISULFID		might get lost (downstream of altered splice site)
408	410	CONFLICT	NSM -> SPC (in Ref. 1; AA sequence).	might get lost (downstream of altered splice site)
426	426	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
429	435	STRAND		might get lost (downstream of altered splice site)
438	443	STRAND		might get lost (downstream of altered splice site)
447	447	DISULFID		might get lost (downstream of altered splice site)
454	456	TURN		might get lost (downstream of altered splice site)
458	458	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
472	476	STRAND		might get lost (downstream of altered splice site)
477	479	TURN		might get lost (downstream of altered splice site)
488	490	TURN		might get lost (downstream of altered splice site)
492	507	HELIX		might get lost (downstream of altered splice site)
519	521	HELIX		might get lost (downstream of altered splice site)
521	521	DISULFID		might get lost (downstream of altered splice site)
524	526	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1242 / 1242

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

414 / 414

position of stopcodon in wt / mu cDNA

1741 / 1741

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

500 / 500

chromosome

strand

-1

last intron/exon boundary

1713

theoretical NMD boundary in CDS

1163

length of CDS

1242

coding sequence (CDS) position

707

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

1206

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

30602

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

78251309

original gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered gDNA sequence snippet

CCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

original cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG

altered cDNA sequence snippet

GAAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG

wildtype AA sequence

mutated AA sequence

MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYPALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*

speed

1.25 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

Problems