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: ENST00000368249
Querying Taster for transcript #2: ENST00000368246
Querying Taster for transcript #3: ENST00000537040
Querying Taster for transcript #4: ENST00000400992
Querying Taster for transcript #5: ENST00000255013
Querying Taster for transcript #6: ENST00000451864
MT speed 0 s - this script 3.712033 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
RHBG	polymorphism_automatic	0.999999999997228	simple_aae		affected		G7D	single base exchange	rs2245623		show file
RHBG	polymorphism_automatic	0.999999999997228	simple_aae		affected		G7D	single base exchange	rs2245623		show file
RHBG	polymorphism_automatic	0.999999999997228	simple_aae		affected		G7D	single base exchange	rs2245623		show file
RHBG	polymorphism_automatic	0.999999999998426	simple_aae		affected		G76D	single base exchange	rs2245623		show file
RHBG	polymorphism_automatic	0.999999999998426	simple_aae		affected		G76D	single base exchange	rs2245623		show file
RHBG	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2245623		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.77206729607238e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000400992

Genbank transcript ID

N/A

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.20G>A
cDNA.388G>A
g.8129G>A

AA changes

G7D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

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

ENSPTRG00000001458

Mmulatta

all identical

ENSMMUG00000017965

113

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000001417

Ggallus

all identical

ENSGALG00000013232

Trubripes

all identical

ENSTRUG00000005400

Drerio

all identical

ENSDARG00000009018

Dmelanogaster

all identical

FBgn0028699

Celegans

all identical

F08F3.3

Xtropicalis

all identical

ENSXETG00000019898

protein features

start (aa)	end (aa)	feature	details
1	13	TOPO_DOM	Cytoplasmic (Potential).	lost
14	34	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
35	61	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
49	49	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
62	82	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1230 / 1230

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

410 / 410

position of stopcodon in wt / mu cDNA

1598 / 1598

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

369 / 369

chromosome

strand

last intron/exon boundary

1582

theoretical NMD boundary in CDS

1163

length of CDS

1230

coding sequence (CDS) position

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

388

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

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

wildtype AA sequence

MVFVGFGFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMVH IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGY KFFTPILESK
FKVQDTCGVH NLHGMPGVLG ALLGVLVAGL ATHEAYGDGL ESVFPLIAEG QRSATSQAMH
QLFGLFVTLM FASVGGGLGG LLLKLPFLDS PPRLPALRGP SSLAGAWRA*

mutated AA sequence

MVFVGFDFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMVH IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGY KFFTPILESK
FKVQDTCGVH NLHGMPGVLG ALLGVLVAGL ATHEAYGDGL ESVFPLIAEG QRSATSQAMH
QLFGLFVTLM FASVGGGLGG LLLKLPFLDS PPRLPALRGP SSLAGAWRA*

speed

0.43 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.77206729607238e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000255013

Genbank transcript ID

N/A

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.20G>A
cDNA.388G>A
g.8129G>A

AA changes

G7D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

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

ENSPTRG00000001458

Mmulatta

all identical

ENSMMUG00000017965

113

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000001417

Ggallus

all identical

ENSGALG00000013232

Trubripes

all identical

ENSTRUG00000005400

Drerio

all identical

ENSDARG00000009018

Dmelanogaster

all identical

FBgn0028699

Celegans

all identical

F08F3.3

Xtropicalis

all identical

ENSXETG00000019898

protein features

start (aa)	end (aa)	feature	details
1	13	TOPO_DOM	Cytoplasmic (Potential).	lost
14	34	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
35	61	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
49	49	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
62	82	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1119 / 1119

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

373 / 373

position of stopcodon in wt / mu cDNA

1487 / 1487

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

369 / 369

chromosome

strand

last intron/exon boundary

1471

theoretical NMD boundary in CDS

1052

length of CDS

1119

coding sequence (CDS) position

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

388

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

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

wildtype AA sequence

MVFVGFGFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRDA GGSMTIHTFG
AYFGLVLSRV LYRPQLEKSK HRQGSVYHSD LFAMIGTIFL WIFWPSFNAA LTALGAGQHR
TALNTYYSLA ASTLGTFALS ALVGEDGRLD MVHIQNAALA GGVVVGTSSE MMLTPFGALA
AGFLAGTVST LGYKFFTPIL ESKFKVQDTC GVHNLHGMPG VLGALLGVLV AGLATHEAYG
DGLESVFPLI AEGQRSATSQ AMHQLFGLFV TLMFASVGGG LGGLLLKLPF LDSPPRLPAL
RGPSSLAGAW RA*

mutated AA sequence

MVFVGFDFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRDA GGSMTIHTFG
AYFGLVLSRV LYRPQLEKSK HRQGSVYHSD LFAMIGTIFL WIFWPSFNAA LTALGAGQHR
TALNTYYSLA ASTLGTFALS ALVGEDGRLD MVHIQNAALA GGVVVGTSSE MMLTPFGALA
AGFLAGTVST LGYKFFTPIL ESKFKVQDTC GVHNLHGMPG VLGALLGVLV AGLATHEAYG
DGLESVFPLI AEGQRSATSQ AMHQLFGLFV TLMFASVGGG LGGLLLKLPF LDSPPRLPAL
RGPSSLAGAW RA*

speed

0.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.77206729607238e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000451864

Genbank transcript ID

N/A

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.20G>A
cDNA.388G>A
g.8129G>A

AA changes

G7D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

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

ENSPTRG00000001458

Mmulatta

all identical

ENSMMUG00000017965

113

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000001417

Ggallus

all identical

ENSGALG00000013232

Trubripes

all identical

ENSTRUG00000005400

Drerio

all identical

ENSDARG00000009018

Dmelanogaster

all identical

FBgn0028699

Celegans

all identical

F08F3.3

Xtropicalis

all identical

ENSXETG00000019898

protein features

start (aa)	end (aa)	feature	details
1	13	TOPO_DOM	Cytoplasmic (Potential).	lost
14	34	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
35	61	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
49	49	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
62	82	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1125 / 1125

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

375 / 375

position of stopcodon in wt / mu cDNA

1493 / 1493

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

369 / 369

chromosome

strand

last intron/exon boundary

1369

theoretical NMD boundary in CDS

950

length of CDS

1125

coding sequence (CDS) position

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

388

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

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

wildtype AA sequence

MVFVGFGFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMPI LESKFKVQDT CGVHNLHGMP GVLGALLGVL VAGLATHEAY GDGLESVFPL
IAEGQRSATS QAMHQLFGLF VTLMFASVGG GLGGIILVLC LLDPCALWHW VAPSSMVGGR
EASQILPYHH QGSC*

mutated AA sequence

MVFVGFDFLM VFLQRYGFSS VGFTFLLAAF ALQWSTLVQG FLHSFHGGHI HVGVESMINA
DFCAGAVLIS FGAVLGKTGP TQLLLMALLE VVLFGINEFV LLHLLGVRVW GGMESGVGGG
QGQPLSQERG GGGGVLPLTP PPQVRDAGGS MTIHTFGAYF GLVLSRVLYR PQLEKSKHRQ
GSVYHSDLFA MIGTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV
GEDGRLDMPI LESKFKVQDT CGVHNLHGMP GVLGALLGVL VAGLATHEAY GDGLESVFPL
IAEGQRSATS QAMHQLFGLF VTLMFASVGG GLGGIILVLC LLDPCALWHW VAPSSMVGGR
EASQILPYHH QGSC*

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.57440239121884e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000368249

Genbank transcript ID

NM_020407

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.227G>A
cDNA.265G>A
g.8129G>A

AA changes

G76D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

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

ENSPTRG00000001458

Mmulatta

all identical

ENSMMUG00000017965

113

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000001417

Ggallus

all identical

ENSGALG00000013232

Trubripes

all identical

ENSTRUG00000005400

Drerio

all identical

ENSDARG00000009018

Dmelanogaster

all identical

FBgn0028699

Celegans

all identical

F08F3.3

Xtropicalis

all identical

ENSXETG00000019898

protein features

start (aa)	end (aa)	feature	details
62	82	TRANSMEM	Helical; (Potential).	lost
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1326 / 1326

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

442 / 442

position of stopcodon in wt / mu cDNA

1364 / 1364

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

39 / 39

chromosome

strand

last intron/exon boundary

1348

theoretical NMD boundary in CDS

1259

length of CDS

1326

coding sequence (CDS) position

227

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

265

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

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

wildtype AA sequence

MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPSFQDVHAM VFVGFGFLMV FLQRYGFSSV GFTFLLAAFA LQWSTLVQGF LHSFHGGHIH
VGVESMINAD FCAGAVLISF GAVLGKTGPT QLLLMALLEV VLFGINEFVL LHLLGVRDAG
GSMTIHTFGA YFGLVLSRVL YRPQLEKSKH RQGSVYHSDL FAMIGTIFLW IFWPSFNAAL
TALGAGQHRT ALNTYYSLAA STLGTFALSA LVGEDGRLDM VHIQNAALAG GVVVGTSSEM
MLTPFGALAA GFLAGTVSTL GYKFFTPILE SKFKVQDTCG VHNLHGMPGV LGALLGVLVA
GLATHEAYGD GLESVFPLIA EGQRSATSQA MHQLFGLFVT LMFASVGGGL GGLLLKLPFL
DSPPRLPALR GPSSLAGAWR A*

mutated AA sequence

MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPSFQDVHAM VFVGFDFLMV FLQRYGFSSV GFTFLLAAFA LQWSTLVQGF LHSFHGGHIH
VGVESMINAD FCAGAVLISF GAVLGKTGPT QLLLMALLEV VLFGINEFVL LHLLGVRDAG
GSMTIHTFGA YFGLVLSRVL YRPQLEKSKH RQGSVYHSDL FAMIGTIFLW IFWPSFNAAL
TALGAGQHRT ALNTYYSLAA STLGTFALSA LVGEDGRLDM VHIQNAALAG GVVVGTSSEM
MLTPFGALAA GFLAGTVSTL GYKFFTPILE SKFKVQDTCG VHNLHGMPGV LGALLGVLVA
GLATHEAYGD GLESVFPLIA EGQRSATSQA MHQLFGLFVT LMFASVGGGL GGLLLKLPFL
DSPPRLPALR GPSSLAGAWR A*

speed

0.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.57440239121884e-12 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000368246

Genbank transcript ID

N/A

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

CDS

DNA changes

c.227G>A
cDNA.265G>A
g.8129G>A

AA changes

G76D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

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

ENSPTRG00000001458

Mmulatta

all identical

ENSMMUG00000017965

113

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000001417

Ggallus

all identical

ENSGALG00000013232

Trubripes

all identical

ENSTRUG00000005400

Drerio

all identical

ENSDARG00000009018

Dmelanogaster

all identical

FBgn0028699

Celegans

all identical

F08F3.3

Xtropicalis

all identical

ENSXETG00000019898

protein features

start (aa)	end (aa)	feature	details
62	82	TRANSMEM	Helical; (Potential).	lost
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1374 / 1374

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

458 / 458

position of stopcodon in wt / mu cDNA

1412 / 1412

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

39 / 39

chromosome

strand

last intron/exon boundary

1344

theoretical NMD boundary in CDS

1255

length of CDS

1374

coding sequence (CDS) position

227

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

265

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

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered cDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

wildtype AA sequence

mutated AA sequence

speed

0.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.92730362537201e-66 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:156347131G>AN/A show variant in all transcripts IGV

HGNC symbol

RHBG

Ensembl transcript ID

ENST00000537040

Genbank transcript ID

N/A

UniProt peptide

Q9H310

alteration type

single base exchange

alteration region

intron

DNA changes

g.8129G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2245623

database	homozygous (A/A)	heterozygous	allele carriers
1000G	229	897	1126
ExAC	9393	13981	23374

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.493	1
	5.493	1
(flanking)	1.043	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 increased	8129	wt: 0.52 / mu: 0.59	wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC	ttgg\|CTTC

distance from splice site

4007

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
62	82	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
83	86	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
87	107	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
108	124	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
125	145	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
146	149	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
150	170	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
171	178	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	201	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	219	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
220	240	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
241	251	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
252	272	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
273	282	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
283	303	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
304	304	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
305	325	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
326	346	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
347	367	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
368	393	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
394	414	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
415	441	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
416	424	REGION	Interaction with ANK3.	might get lost (downstream of altered splice site)
419	419	MUTAGEN	F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.	might get lost (downstream of altered splice site)
420	420	MUTAGEN	L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.	might get lost (downstream of altered splice site)
421	421	MUTAGEN	D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.	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

39 / 39

chromosome

strand

last intron/exon boundary

515

theoretical NMD boundary in CDS

426

length of CDS

687

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)

8129

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

156347131

original gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC

altered gDNA sequence snippet

CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPRTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV GEDGRLDMVH
IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGP SLNQNSKSKT HVESTTSMGC
RGSWGPSWGS LWLDLPPMKL TEMGEFPPNP YCSRHPSGMT SVILFHCV*

mutated AA sequence

N/A

speed

0.30 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems