MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000352480
Querying Taster for transcript #2: ENST00000372394
Querying Taster for transcript #3: ENST00000372393
Querying Taster for transcript #4: ENST00000334909
MT speed 0.67 s - this script 2.638686 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ASS1	disease_causing_automatic	0.999999999445122	simple_aae		affected	0	G14S	single base exchange	rs121908636		show file
ASS1	disease_causing_automatic	0.999999999445122	simple_aae		affected	0	G14S	single base exchange	rs121908636		show file
ASS1	disease_causing_automatic	0.999999999445122	simple_aae		affected	0	G14S	single base exchange	rs121908636		show file
ASS1	disease_causing_automatic	0.999999999445122	simple_aae		affected	0	G14S	single base exchange	rs121908636		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999445122 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM900031)
known disease mutation: rs6324 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:133327655G>AN/A show variant in all transcripts IGV

HGNC symbol

ASS1

Ensembl transcript ID

ENST00000352480

Genbank transcript ID

NM_054012

UniProt peptide

P00966

alteration type

single base exchange

alteration region

CDS

DNA changes

c.40G>A
cDNA.112G>A
g.7562G>A

AA changes

G14S Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs121908636

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation: rs6324 (pathogenic for Citrullinemia type I) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900031)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900031)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900031)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.537	0.19
	5.245	1
(flanking)	5.245	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	7557	wt: 0.5183 / mu: 0.5197 (marginal change - not scored)	wt: CTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGT mu: CTCCGTGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGT	acag\|TGGC
Donor increased	7567	wt: 0.23 / mu: 0.33	wt: GGCCTGGACACCTCG mu: AGCCTGGACACCTCG	CCTG\|gaca

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

ENSPTRG00000021473

Mmulatta

all identical

ENSMMUG00000019199

Fcatus

all identical

ENSFCAG00000005111

Mmusculus

all identical

ENSMUSG00000046687

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018657

Drerio

no alignment

ENSDARG00000032564

n/a

Dmelanogaster

all identical

FBgn0026565

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000001347

protein features

start (aa)	end (aa)	feature	details
10	18	NP_BIND	ATP (By similarity).	lost
15	26	HELIX		might get lost (downstream of altered splice site)
29	39	STRAND		might get lost (downstream of altered splice site)
36	36	BINDING	ATP; via amide nitrogen and carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
44	54	HELIX		might get lost (downstream of altered splice site)
57	63	STRAND		might get lost (downstream of altered splice site)
65	71	HELIX		might get lost (downstream of altered splice site)
73	78	HELIX		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
87	87	BINDING	Citrulline.	might get lost (downstream of altered splice site)
90	93	TURN		might get lost (downstream of altered splice site)
92	92	BINDING	Citrulline.	might get lost (downstream of altered splice site)
94	109	HELIX		might get lost (downstream of altered splice site)
112	115	STRAND		might get lost (downstream of altered splice site)
115	123	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Citrulline.	might get lost (downstream of altered splice site)
124	124	BINDING	Aspartate.	might get lost (downstream of altered splice site)
124	135	HELIX		might get lost (downstream of altered splice site)
127	127	BINDING	Citrulline.	might get lost (downstream of altered splice site)
140	142	STRAND		might get lost (downstream of altered splice site)
144	146	HELIX		might get lost (downstream of altered splice site)
148	151	HELIX		might get lost (downstream of altered splice site)
158	166	HELIX		might get lost (downstream of altered splice site)
165	165	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
180	180	BINDING	Citrulline.	might get lost (downstream of altered splice site)
181	183	STRAND		might get lost (downstream of altered splice site)
188	190	STRAND		might get lost (downstream of altered splice site)
189	189	BINDING	Citrulline.	might get lost (downstream of altered splice site)
193	196	HELIX		might get lost (downstream of altered splice site)
204	206	HELIX		might get lost (downstream of altered splice site)
213	215	TURN		might get lost (downstream of altered splice site)
221	228	STRAND		might get lost (downstream of altered splice site)
231	237	STRAND		might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
247	261	HELIX		might get lost (downstream of altered splice site)
265	271	STRAND		might get lost (downstream of altered splice site)
270	270	BINDING	Citrulline.	might get lost (downstream of altered splice site)
277	283	STRAND		might get lost (downstream of altered splice site)
282	282	BINDING	Citrulline.	might get lost (downstream of altered splice site)
285	301	HELIX		might get lost (downstream of altered splice site)
304	323	HELIX		might get lost (downstream of altered splice site)
325	327	CONFLICT	FWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).	might get lost (downstream of altered splice site)
326	328	STRAND		might get lost (downstream of altered splice site)
329	341	HELIX		might get lost (downstream of altered splice site)
342	344	TURN		might get lost (downstream of altered splice site)
347	354	STRAND		might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	364	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
385	404	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

position of stopcodon in wt / mu cDNA

1311 / 1311

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

73 / 73

chromosome

strand

last intron/exon boundary

1266

theoretical NMD boundary in CDS

1143

length of CDS

1239

coding sequence (CDS) position

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

112

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

7562

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

133327655

original gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

original cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

wildtype AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

mutated AA sequence

MSSKGSVVLA YSGSLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

speed

0.18 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: 0.999999999445122 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM900031)
known disease mutation: rs6324 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:133327655G>AN/A show variant in all transcripts IGV

HGNC symbol

ASS1

Ensembl transcript ID

ENST00000372394

Genbank transcript ID

N/A

UniProt peptide

P00966

alteration type

single base exchange

alteration region

CDS

DNA changes

c.40G>A
cDNA.521G>A
g.7562G>A

AA changes

G14S Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs121908636

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.537	0.19
	5.245	1
(flanking)	5.245	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	7557	wt: 0.5183 / mu: 0.5197 (marginal change - not scored)	wt: CTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGT mu: CTCCGTGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGT	acag\|TGGC
Donor increased	7567	wt: 0.23 / mu: 0.33	wt: GGCCTGGACACCTCG mu: AGCCTGGACACCTCG	CCTG\|gaca

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

ENSPTRG00000021473

Mmulatta

all identical

ENSMMUG00000019199

Fcatus

all identical

ENSFCAG00000005111

Mmusculus

all identical

ENSMUSG00000046687

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018657

Drerio

no alignment

ENSDARG00000032564

n/a

Dmelanogaster

all identical

FBgn0026565

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000001347

protein features

start (aa)	end (aa)	feature	details
10	18	NP_BIND	ATP (By similarity).	lost
15	26	HELIX		might get lost (downstream of altered splice site)
29	39	STRAND		might get lost (downstream of altered splice site)
36	36	BINDING	ATP; via amide nitrogen and carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
44	54	HELIX		might get lost (downstream of altered splice site)
57	63	STRAND		might get lost (downstream of altered splice site)
65	71	HELIX		might get lost (downstream of altered splice site)
73	78	HELIX		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
87	87	BINDING	Citrulline.	might get lost (downstream of altered splice site)
90	93	TURN		might get lost (downstream of altered splice site)
92	92	BINDING	Citrulline.	might get lost (downstream of altered splice site)
94	109	HELIX		might get lost (downstream of altered splice site)
112	115	STRAND		might get lost (downstream of altered splice site)
115	123	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Citrulline.	might get lost (downstream of altered splice site)
124	124	BINDING	Aspartate.	might get lost (downstream of altered splice site)
124	135	HELIX		might get lost (downstream of altered splice site)
127	127	BINDING	Citrulline.	might get lost (downstream of altered splice site)
140	142	STRAND		might get lost (downstream of altered splice site)
144	146	HELIX		might get lost (downstream of altered splice site)
148	151	HELIX		might get lost (downstream of altered splice site)
158	166	HELIX		might get lost (downstream of altered splice site)
165	165	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
180	180	BINDING	Citrulline.	might get lost (downstream of altered splice site)
181	183	STRAND		might get lost (downstream of altered splice site)
188	190	STRAND		might get lost (downstream of altered splice site)
189	189	BINDING	Citrulline.	might get lost (downstream of altered splice site)
193	196	HELIX		might get lost (downstream of altered splice site)
204	206	HELIX		might get lost (downstream of altered splice site)
213	215	TURN		might get lost (downstream of altered splice site)
221	228	STRAND		might get lost (downstream of altered splice site)
231	237	STRAND		might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
247	261	HELIX		might get lost (downstream of altered splice site)
265	271	STRAND		might get lost (downstream of altered splice site)
270	270	BINDING	Citrulline.	might get lost (downstream of altered splice site)
277	283	STRAND		might get lost (downstream of altered splice site)
282	282	BINDING	Citrulline.	might get lost (downstream of altered splice site)
285	301	HELIX		might get lost (downstream of altered splice site)
304	323	HELIX		might get lost (downstream of altered splice site)
325	327	CONFLICT	FWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).	might get lost (downstream of altered splice site)
326	328	STRAND		might get lost (downstream of altered splice site)
329	341	HELIX		might get lost (downstream of altered splice site)
342	344	TURN		might get lost (downstream of altered splice site)
347	354	STRAND		might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	364	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
385	404	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

position of stopcodon in wt / mu cDNA

1720 / 1720

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

482 / 482

chromosome

strand

last intron/exon boundary

1675

theoretical NMD boundary in CDS

1143

length of CDS

1239

coding sequence (CDS) position

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

521

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

7562

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

133327655

original gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

original cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

wildtype AA sequence

mutated AA sequence

speed

0.21 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999445122 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM900031)
known disease mutation: rs6324 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:133327655G>AN/A show variant in all transcripts IGV

HGNC symbol

ASS1

Ensembl transcript ID

ENST00000372393

Genbank transcript ID

N/A

UniProt peptide

P00966

alteration type

single base exchange

alteration region

CDS

DNA changes

c.40G>A
cDNA.113G>A
g.7562G>A

AA changes

G14S Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs121908636

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.537	0.19
	5.245	1
(flanking)	5.245	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	7557	wt: 0.5183 / mu: 0.5197 (marginal change - not scored)	wt: CTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGT mu: CTCCGTGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGT	acag\|TGGC
Donor increased	7567	wt: 0.23 / mu: 0.33	wt: GGCCTGGACACCTCG mu: AGCCTGGACACCTCG	CCTG\|gaca

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

ENSPTRG00000021473

Mmulatta

all identical

ENSMMUG00000019199

Fcatus

all identical

ENSFCAG00000005111

Mmusculus

all identical

ENSMUSG00000046687

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018657

Drerio

no alignment

ENSDARG00000032564

n/a

Dmelanogaster

all identical

FBgn0026565

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000001347

protein features

start (aa)	end (aa)	feature	details
10	18	NP_BIND	ATP (By similarity).	lost
15	26	HELIX		might get lost (downstream of altered splice site)
29	39	STRAND		might get lost (downstream of altered splice site)
36	36	BINDING	ATP; via amide nitrogen and carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
44	54	HELIX		might get lost (downstream of altered splice site)
57	63	STRAND		might get lost (downstream of altered splice site)
65	71	HELIX		might get lost (downstream of altered splice site)
73	78	HELIX		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
87	87	BINDING	Citrulline.	might get lost (downstream of altered splice site)
90	93	TURN		might get lost (downstream of altered splice site)
92	92	BINDING	Citrulline.	might get lost (downstream of altered splice site)
94	109	HELIX		might get lost (downstream of altered splice site)
112	115	STRAND		might get lost (downstream of altered splice site)
115	123	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Citrulline.	might get lost (downstream of altered splice site)
124	124	BINDING	Aspartate.	might get lost (downstream of altered splice site)
124	135	HELIX		might get lost (downstream of altered splice site)
127	127	BINDING	Citrulline.	might get lost (downstream of altered splice site)
140	142	STRAND		might get lost (downstream of altered splice site)
144	146	HELIX		might get lost (downstream of altered splice site)
148	151	HELIX		might get lost (downstream of altered splice site)
158	166	HELIX		might get lost (downstream of altered splice site)
165	165	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
180	180	BINDING	Citrulline.	might get lost (downstream of altered splice site)
181	183	STRAND		might get lost (downstream of altered splice site)
188	190	STRAND		might get lost (downstream of altered splice site)
189	189	BINDING	Citrulline.	might get lost (downstream of altered splice site)
193	196	HELIX		might get lost (downstream of altered splice site)
204	206	HELIX		might get lost (downstream of altered splice site)
213	215	TURN		might get lost (downstream of altered splice site)
221	228	STRAND		might get lost (downstream of altered splice site)
231	237	STRAND		might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
247	261	HELIX		might get lost (downstream of altered splice site)
265	271	STRAND		might get lost (downstream of altered splice site)
270	270	BINDING	Citrulline.	might get lost (downstream of altered splice site)
277	283	STRAND		might get lost (downstream of altered splice site)
282	282	BINDING	Citrulline.	might get lost (downstream of altered splice site)
285	301	HELIX		might get lost (downstream of altered splice site)
304	323	HELIX		might get lost (downstream of altered splice site)
325	327	CONFLICT	FWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).	might get lost (downstream of altered splice site)
326	328	STRAND		might get lost (downstream of altered splice site)
329	341	HELIX		might get lost (downstream of altered splice site)
342	344	TURN		might get lost (downstream of altered splice site)
347	354	STRAND		might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	364	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
385	404	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

position of stopcodon in wt / mu cDNA

1312 / 1312

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

74 / 74

chromosome

strand

last intron/exon boundary

1267

theoretical NMD boundary in CDS

1143

length of CDS

1239

coding sequence (CDS) position

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

113

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

7562

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

133327655

original gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

original cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

wildtype AA sequence

mutated AA sequence

speed

0.14 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999445122 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM900031)
known disease mutation: rs6324 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:133327655G>AN/A show variant in all transcripts IGV

HGNC symbol

ASS1

Ensembl transcript ID

ENST00000334909

Genbank transcript ID

NM_000050

UniProt peptide

P00966

alteration type

single base exchange

alteration region

CDS

DNA changes

c.40G>A
cDNA.396G>A
g.7562G>A

AA changes

G14S Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs121908636

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.537	0.19
	5.245	1
(flanking)	5.245	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	7557	wt: 0.5183 / mu: 0.5197 (marginal change - not scored)	wt: CTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGT mu: CTCCGTGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGT	acag\|TGGC
Donor increased	7567	wt: 0.23 / mu: 0.33	wt: GGCCTGGACACCTCG mu: AGCCTGGACACCTCG	CCTG\|gaca

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

ENSPTRG00000021473

Mmulatta

all identical

ENSMMUG00000019199

Fcatus

all identical

ENSFCAG00000005111

Mmusculus

all identical

ENSMUSG00000046687

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000018657

Drerio

no alignment

ENSDARG00000032564

n/a

Dmelanogaster

all identical

FBgn0026565

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000001347

protein features

start (aa)	end (aa)	feature	details
10	18	NP_BIND	ATP (By similarity).	lost
15	26	HELIX		might get lost (downstream of altered splice site)
29	39	STRAND		might get lost (downstream of altered splice site)
36	36	BINDING	ATP; via amide nitrogen and carbonyl oxygen (By similarity).	might get lost (downstream of altered splice site)
44	54	HELIX		might get lost (downstream of altered splice site)
57	63	STRAND		might get lost (downstream of altered splice site)
65	71	HELIX		might get lost (downstream of altered splice site)
73	78	HELIX		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
87	87	BINDING	Citrulline.	might get lost (downstream of altered splice site)
90	93	TURN		might get lost (downstream of altered splice site)
92	92	BINDING	Citrulline.	might get lost (downstream of altered splice site)
94	109	HELIX		might get lost (downstream of altered splice site)
112	115	STRAND		might get lost (downstream of altered splice site)
115	123	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Aspartate.	might get lost (downstream of altered splice site)
123	123	BINDING	Citrulline.	might get lost (downstream of altered splice site)
124	124	BINDING	Aspartate.	might get lost (downstream of altered splice site)
124	135	HELIX		might get lost (downstream of altered splice site)
127	127	BINDING	Citrulline.	might get lost (downstream of altered splice site)
140	142	STRAND		might get lost (downstream of altered splice site)
144	146	HELIX		might get lost (downstream of altered splice site)
148	151	HELIX		might get lost (downstream of altered splice site)
158	166	HELIX		might get lost (downstream of altered splice site)
165	165	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
180	180	BINDING	Citrulline.	might get lost (downstream of altered splice site)
181	183	STRAND		might get lost (downstream of altered splice site)
188	190	STRAND		might get lost (downstream of altered splice site)
189	189	BINDING	Citrulline.	might get lost (downstream of altered splice site)
193	196	HELIX		might get lost (downstream of altered splice site)
204	206	HELIX		might get lost (downstream of altered splice site)
213	215	TURN		might get lost (downstream of altered splice site)
221	228	STRAND		might get lost (downstream of altered splice site)
231	237	STRAND		might get lost (downstream of altered splice site)
238	240	TURN		might get lost (downstream of altered splice site)
247	261	HELIX		might get lost (downstream of altered splice site)
265	271	STRAND		might get lost (downstream of altered splice site)
270	270	BINDING	Citrulline.	might get lost (downstream of altered splice site)
277	283	STRAND		might get lost (downstream of altered splice site)
282	282	BINDING	Citrulline.	might get lost (downstream of altered splice site)
285	301	HELIX		might get lost (downstream of altered splice site)
304	323	HELIX		might get lost (downstream of altered splice site)
325	327	CONFLICT	FWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).	might get lost (downstream of altered splice site)
326	328	STRAND		might get lost (downstream of altered splice site)
329	341	HELIX		might get lost (downstream of altered splice site)
342	344	TURN		might get lost (downstream of altered splice site)
347	354	STRAND		might get lost (downstream of altered splice site)
352	352	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
357	364	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
385	404	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

position of stopcodon in wt / mu cDNA

1595 / 1595

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

357 / 357

chromosome

strand

last intron/exon boundary

1550

theoretical NMD boundary in CDS

1143

length of CDS

1239

coding sequence (CDS) position

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

396

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

7562

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

133327655

original gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered gDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

original cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATC

altered cDNA sequence snippet

TGGTTCTGGCCTACAGTGGCAGCCTGGACACCTCGTGCATC

wildtype AA sequence

mutated AA sequence

speed

0.14 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

Problems