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: ENST00000358232
Querying Taster for transcript #2: ENST00000351393
Querying Taster for transcript #3: ENST00000442325
Querying Taster for transcript #4: ENST00000423854
Querying Taster for transcript #5: ENST00000350494
Querying Taster for transcript #6: ENST00000542824
MT speed 4.35 s - this script 4.987756 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ELP2	polymorphism_automatic	0.000329782522856981	simple_aae		affected		V279M	single base exchange	rs1785928		show file
ELP2	polymorphism_automatic	0.000329782522856981	simple_aae		affected		V279M	single base exchange	rs1785928		show file
ELP2	polymorphism_automatic	0.000445397240670053	simple_aae		affected		V305M	single base exchange	rs1785928		show file
ELP2	polymorphism_automatic	0.000445397240670053	simple_aae		affected		V370M	single base exchange	rs1785928		show file
ELP2	polymorphism_automatic	0.000445397240670053	simple_aae		affected		V235M	single base exchange	rs1785928		show file
ELP2	polymorphism_automatic	0.000445397240670053	simple_aae		affected		V344M	single base exchange	rs1785928		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999670217477143 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000351393

Genbank transcript ID

NM_001242877

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.835G>A
cDNA.878G>A
g.16525G>A

AA changes

V279M Score: 21 explain score(s)

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

279

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

279

mutated

all conserved

279

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

300

Trubripes

all conserved

ENSTRUG00000011088

300

Drerio

all conserved

ENSDARG00000017199

295

Dmelanogaster

all conserved

FBgn0033540

310

Celegans

not conserved

Y111B2A.17

313

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
281	329	REPEAT	WD 6.	might get lost (downstream of altered splice site)
302	302	CONFLICT	Q -> R (in Ref. 4; CAG33550).	might get lost (downstream of altered splice site)
339	378	REPEAT	WD 7.	might get lost (downstream of altered splice site)
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2403 / 2403

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

801 / 801

position of stopcodon in wt / mu cDNA

2446 / 2446

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

44 / 44

chromosome

strand

last intron/exon boundary

2290

theoretical NMD boundary in CDS

2196

length of CDS

2403

coding sequence (CDS) position

835

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

878

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPVR LLSASMDKTM ILWAPDEESG
VWLEQVRVGE VGGNTLGFYD CQFNEDGSMI IAHAFHGALH LWKQNTVNPR EWTPEIVISG
HFDGVQDLVW DPEGEFIITV GTDQTTRLFA PWKRKDQSQV TWHEIARPQI HGYDLKCLAM
INRFQFVSGA DEKVLRVFSA PRNFVENFCA ITGQSLNHVL CNQDSDLPEG ATVPALGLSN
KAVFQGDIAS QPSDEEELLT STGFEYQQVA FQPSILTEPP TEDHLLQNTL WPEVQKLYGH
GYEIFCVTCN SSKTLLASAC KAAKKEHAAI ILWNTTSWKQ VQNLVFHSLT VTQMAFSPNE
KFLLAVSRDR TWSLWKKQDT ISPEFEPVFS LFAFTNKITS VHSRIIWSCD WSPDSKYFFT
GSRDKKVVVW GECDSTDDCI EHNIGPCSSV LDVGGAVTAV SVCPVLHPSQ RYVVAVGLEC
GKICLYTWKK TDQVPEINDW THCVETSQSQ SHTLAIRKLC WKNCSGKTEQ KEAEGAEWLH
FASCGEDHTV KIHRVNKCAL *

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPMR LLSASMDKTM ILWAPDEESG
VWLEQVRVGE VGGNTLGFYD CQFNEDGSMI IAHAFHGALH LWKQNTVNPR EWTPEIVISG
HFDGVQDLVW DPEGEFIITV GTDQTTRLFA PWKRKDQSQV TWHEIARPQI HGYDLKCLAM
INRFQFVSGA DEKVLRVFSA PRNFVENFCA ITGQSLNHVL CNQDSDLPEG ATVPALGLSN
KAVFQGDIAS QPSDEEELLT STGFEYQQVA FQPSILTEPP TEDHLLQNTL WPEVQKLYGH
GYEIFCVTCN SSKTLLASAC KAAKKEHAAI ILWNTTSWKQ VQNLVFHSLT VTQMAFSPNE
KFLLAVSRDR TWSLWKKQDT ISPEFEPVFS LFAFTNKITS VHSRIIWSCD WSPDSKYFFT
GSRDKKVVVW GECDSTDDCI EHNIGPCSSV LDVGGAVTAV SVCPVLHPSQ RYVVAVGLEC
GKICLYTWKK TDQVPEINDW THCVETSQSQ SHTLAIRKLC WKNCSGKTEQ KEAEGAEWLH
FASCGEDHTV KIHRVNKCAL *

speed

0.78 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: 0.999670217477143 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000542824

Genbank transcript ID

NM_001242878

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.835G>A
cDNA.845G>A
g.16525G>A

AA changes

V279M Score: 21 explain score(s)

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

279

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

279

mutated

all conserved

279

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

300

Trubripes

all conserved

ENSTRUG00000011088

300

Drerio

all conserved

ENSDARG00000017199

295

Dmelanogaster

all conserved

FBgn0033540

310

Celegans

not conserved

Y111B2A.17

313

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
281	329	REPEAT	WD 6.	might get lost (downstream of altered splice site)
302	302	CONFLICT	Q -> R (in Ref. 4; CAG33550).	might get lost (downstream of altered splice site)
339	378	REPEAT	WD 7.	might get lost (downstream of altered splice site)
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2281 / 2281

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

11 / 11

chromosome

strand

last intron/exon boundary

2125

theoretical NMD boundary in CDS

2064

length of CDS

2271

coding sequence (CDS) position

835

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

845

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPVR LLSASMDKTM ILWAPDEESG
VWLEQREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR KDQSQVTWHE
IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ SLNHVLCNQD
SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS ILTEPPTEDH
LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN TTSWKQVQNL
VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF TNKITSVHSR
IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG GAVTAVSVCP
VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL AIRKLCWKNC
SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPMR LLSASMDKTM ILWAPDEESG
VWLEQREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR KDQSQVTWHE
IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ SLNHVLCNQD
SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS ILTEPPTEDH
LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN TTSWKQVQNL
VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF TNKITSVHSR
IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG GAVTAVSVCP
VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL AIRKLCWKNC
SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99955460275933 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000358232

Genbank transcript ID

NM_018255

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.913G>A
cDNA.976G>A
g.16525G>A

AA changes

V305M Score: 21 explain score(s)

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

305

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

305

mutated

all conserved

305

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

300

Trubripes

all conserved

ENSTRUG00000011088

300

Drerio

all conserved

ENSDARG00000017199

295

Dmelanogaster

all conserved

FBgn0033540

310

Celegans

not conserved

Y111B2A.17

313

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
281	329	REPEAT	WD 6.	lost
302	302	CONFLICT	Q -> R (in Ref. 4; CAG33550).	might get lost (downstream of altered splice site)
339	378	REPEAT	WD 7.	might get lost (downstream of altered splice site)
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2481 / 2481

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

827 / 827

position of stopcodon in wt / mu cDNA

2544 / 2544

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

64 / 64

chromosome

strand

last intron/exon boundary

2388

theoretical NMD boundary in CDS

2274

length of CDS

2481

coding sequence (CDS) position

913

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

976

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVPILAC
GNDDCRIHIF AQQNDQFQKV LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI
KSTSLETQDD DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
LQQPVRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA
FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR
KDQSQVTWHE IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ
SLNHVLCNQD SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS
ILTEPPTEDH LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF
TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG
GAVTAVSVCP VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL
AIRKLCWKNC SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVPILAC
GNDDCRIHIF AQQNDQFQKV LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI
KSTSLETQDD DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
LQQPMRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA
FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR
KDQSQVTWHE IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ
SLNHVLCNQD SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS
ILTEPPTEDH LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF
TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG
GAVTAVSVCP VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL
AIRKLCWKNC SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99955460275933 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000442325

Genbank transcript ID

NM_001242875

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1108G>A
cDNA.1144G>A
g.16525G>A

AA changes

V370M Score: 21 explain score(s)

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

370

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

370

mutated

all conserved

370

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

300

Trubripes

all conserved

ENSTRUG00000011088

300

Drerio

all conserved

ENSDARG00000017199

295

Dmelanogaster

all conserved

FBgn0033540

310

Celegans

not conserved

Y111B2A.17

313

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
339	378	REPEAT	WD 7.	lost
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2676 / 2676

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

892 / 892

position of stopcodon in wt / mu cDNA

2712 / 2712

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

37 / 37

chromosome

strand

last intron/exon boundary

2556

theoretical NMD boundary in CDS

2469

length of CDS

2676

coding sequence (CDS) position

1108

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

1144

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVTWKTG
QVERGRAWKP PASLALCSRS CDSMVSCYAS ILCKALWKEK LHTFWHHNRI SFLPSAFRPI
PILACGNDDC RIHIFAQQND QFQKVLSLCG HEDWIRGVEW AAFGRDLFLA SCSQDCLIRI
WKLYIKSTSL ETQDDDNIRL KENTFTIENE SVKIAFAVTL ETVLAGHENW VNAVHWQPVF
YKDGVLQQPV RLLSASMDKT MILWAPDEES GVWLEQVRVG EVGGNTLGFY DCQFNEDGSM
IIAHAFHGAL HLWKQNTVNP REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF
APWKRKDQSQ VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC
AITGQSLNHV LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV
AFQPSILTEP PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA
IILWNTTSWK QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF
SLFAFTNKIT SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS
VLDVGGAVTA VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS
QSHTLAIRKL CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVTWKTG
QVERGRAWKP PASLALCSRS CDSMVSCYAS ILCKALWKEK LHTFWHHNRI SFLPSAFRPI
PILACGNDDC RIHIFAQQND QFQKVLSLCG HEDWIRGVEW AAFGRDLFLA SCSQDCLIRI
WKLYIKSTSL ETQDDDNIRL KENTFTIENE SVKIAFAVTL ETVLAGHENW VNAVHWQPVF
YKDGVLQQPM RLLSASMDKT MILWAPDEES GVWLEQVRVG EVGGNTLGFY DCQFNEDGSM
IIAHAFHGAL HLWKQNTVNP REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF
APWKRKDQSQ VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC
AITGQSLNHV LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV
AFQPSILTEP PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA
IILWNTTSWK QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF
SLFAFTNKIT SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS
VLDVGGAVTA VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS
QSHTLAIRKL CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99955460275933 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000423854

Genbank transcript ID

NM_001242879

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.703G>A
cDNA.738G>A
g.16525G>A

AA changes

V235M Score: 21 explain score(s)

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

235

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

235

mutated

all conserved

235

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

300

Trubripes

all conserved

ENSTRUG00000011088

304

Drerio

all conserved

ENSDARG00000017199

299

Dmelanogaster

all conserved

FBgn0033540

313

Celegans

not conserved

Y111B2A.17

309

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
205	246	REPEAT	WD 5.	lost
267	267	CONFLICT	V -> F (in Ref. 4; CAG33550).	might get lost (downstream of altered splice site)
281	329	REPEAT	WD 6.	might get lost (downstream of altered splice site)
302	302	CONFLICT	Q -> R (in Ref. 4; CAG33550).	might get lost (downstream of altered splice site)
339	378	REPEAT	WD 7.	might get lost (downstream of altered splice site)
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2306 / 2306

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

36 / 36

chromosome

strand

last intron/exon boundary

2150

theoretical NMD boundary in CDS

2064

length of CDS

2271

coding sequence (CDS) position

703

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

738

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEGR DLFLASCSQD CLIRIWKLYI KSTSLETQDD
DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV LQQPVRLLSA
SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA FHGALHLWKQ
NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR KDQSQVTWHE
IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ SLNHVLCNQD
SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS ILTEPPTEDH
LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN TTSWKQVQNL
VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF TNKITSVHSR
IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG GAVTAVSVCP
VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL AIRKLCWKNC
SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEGR DLFLASCSQD CLIRIWKLYI KSTSLETQDD
DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV LQQPMRLLSA
SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA FHGALHLWKQ
NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR KDQSQVTWHE
IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ SLNHVLCNQD
SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS ILTEPPTEDH
LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN TTSWKQVQNL
VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF TNKITSVHSR
IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG GAVTAVSVCP
VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL AIRKLCWKNC
SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99955460275933 (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)

chr18:33725931G>AN/A show variant in all transcripts IGV

HGNC symbol

ELP2

Ensembl transcript ID

ENST00000350494

Genbank transcript ID

NM_001242876

UniProt peptide

Q6IA86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1030G>A
cDNA.1044G>A
g.16525G>A

AA changes

V344M Score: 21 explain score(s)

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

344

frameshift

known variant

Reference ID: rs1785928

database	homozygous (A/A)	heterozygous	allele carriers
1000G	299	1013	1312
ExAC	7458	17851	25309

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.227	0.993
	-0.492	0.955
(flanking)	4.241	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	16520	wt: 0.72 / mu: 0.99	wt: ACAGCAGCCAGTGAG mu: ACAGCAGCCAATGAG	AGCA\|gcca
Donor increased	16528	wt: 0.65 / mu: 0.76	wt: CAGTGAGATTATTAT mu: CAATGAGATTATTAT	GTGA\|gatt
Donor marginally increased	16517	wt: 0.8249 / mu: 0.8502 (marginal change - not scored)	wt: CCTACAGCAGCCAGT mu: CCTACAGCAGCCAAT	TACA\|gcag
Donor gained	16521	0.32	mu: CAGCAGCCAATGAGA	GCAG\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

344

mutated

all conserved

344

Ptroglodytes

all conserved

ENSPTRG00000009977

305

Mmulatta

all conserved

ENSMMUG00000018785

306

Fcatus

no alignment

ENSFCAG00000008800

n/a

Mmusculus

all identical

ENSMUSG00000024271

304

Ggallus

all conserved

ENSGALG00000013203

302

Trubripes

all conserved

ENSTRUG00000011088

304

Drerio

all conserved

ENSDARG00000017199

299

Dmelanogaster

all conserved

FBgn0033540

313

Celegans

not conserved

Y111B2A.17

313

Xtropicalis

all conserved

ENSXETG00000018920

362

protein features

start (aa)	end (aa)	feature	details
339	378	REPEAT	WD 7.	lost
376	376	CONFLICT	R -> G (in Ref. 3; BAB14193).	might get lost (downstream of altered splice site)
386	425	REPEAT	WD 8.	might get lost (downstream of altered splice site)
436	474	REPEAT	WD 9.	might get lost (downstream of altered splice site)
565	609	REPEAT	WD 10.	might get lost (downstream of altered splice site)
590	590	CONFLICT	K -> E (in Ref. 2; AAQ03093).	might get lost (downstream of altered splice site)
612	651	REPEAT	WD 11.	might get lost (downstream of altered splice site)
667	706	REPEAT	WD 12.	might get lost (downstream of altered splice site)
698	698	CONFLICT	E -> V (in Ref. 1; AAK97355 and 3; BAB14193).	might get lost (downstream of altered splice site)
712	753	REPEAT	WD 13.	might get lost (downstream of altered splice site)
777	826	REPEAT	WD 14.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2466 / 2466

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

822 / 822

position of stopcodon in wt / mu cDNA

2480 / 2480

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

15 / 15

chromosome

strand

last intron/exon boundary

2324

theoretical NMD boundary in CDS

2259

length of CDS

2466

coding sequence (CDS) position

1030

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

1044

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

16525

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

33725931

original gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered gDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

original cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC

altered cDNA sequence snippet

ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC

wildtype AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVT WKTGQVERGR AWKPPASLAL CSRSCDSMVS
CYASILCKAL WKEKLHTFWH HNRISFLPSA FRPIPILACG NDDCRIHIFA QQNDQFQKVL
SLCGHEDWIR GVEWAAFGRD LFLASCSQDC LIRIWKLYIK STSLETQDDD NIRLKENTFT
IENESVKIAF AVTLETVLAG HENWVNAVHW QPVFYKDGVL QQPVRLLSAS MDKTMILWAP
DEESGVWLEQ REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF APWKRKDQSQ
VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC AITGQSLNHV
LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV AFQPSILTEP
PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA IILWNTTSWK
QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF SLFAFTNKIT
SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS VLDVGGAVTA
VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS QSHTLAIRKL
CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*

mutated AA sequence

MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVT WKTGQVERGR AWKPPASLAL CSRSCDSMVS
CYASILCKAL WKEKLHTFWH HNRISFLPSA FRPIPILACG NDDCRIHIFA QQNDQFQKVL
SLCGHEDWIR GVEWAAFGRD LFLASCSQDC LIRIWKLYIK STSLETQDDD NIRLKENTFT
IENESVKIAF AVTLETVLAG HENWVNAVHW QPVFYKDGVL QQPMRLLSAS MDKTMILWAP
DEESGVWLEQ REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF APWKRKDQSQ
VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC AITGQSLNHV
LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV AFQPSILTEP
PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA IILWNTTSWK
QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF SLFAFTNKIT
SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS VLDVGGAVTA
VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS QSHTLAIRKL
CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*

speed

0.70 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