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: ENST00000403799
Querying Taster for transcript #2: ENST00000395796
Querying Taster for transcript #3: ENST00000345378
Querying Taster for transcript #4: ENST00000437084
MT speed 0 s - this script 4.853689 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GCK	disease_causing_automatic	0.999999999975357	simple_aae		affected	0	G244R	single base exchange	rs104894008		show file
GCK	disease_causing_automatic	0.999999999995125	simple_aae		affected	0	G261R	single base exchange	rs104894008		show file
GCK	disease_causing_automatic	0.999999999995125	simple_aae		affected	0	G262R	single base exchange	rs104894008		show file
GCK	disease_causing_automatic	0.999999999995125	simple_aae		affected	0	G260R	single base exchange	rs104894008		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999975357 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920306)
known disease mutation: rs16135 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:44187331C>TN/A show variant in all transcripts IGV

HGNC symbol

GCK

Ensembl transcript ID

ENST00000437084

Genbank transcript ID

N/A

UniProt peptide

P35557

alteration type

single base exchange

alteration region

CDS

DNA changes

c.730G>A
cDNA.764G>A
g.50439G>A

AA changes

G244R Score: 125 explain score(s)

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

244

frameshift

known variant

Reference ID: rs104894008

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

known disease mutation: rs16135 (pathogenic for Maturity-onset diabetes of the young, type 2|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920306)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920306)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920306)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.917	1
	5.864	1
(flanking)	0.198	0.998

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 gained	50439	0.89	mu: CCTTCAGGGACTCCG	TTCA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

244

mutated

not conserved

244

Ptroglodytes

all identical

ENSPTRG00000019140

260

Mmulatta

all identical

ENSMMUG00000002427

262

Fcatus

all identical

ENSFCAG00000014361

246

Mmusculus

all identical

ENSMUSG00000041798

261

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068006

271

Dmelanogaster

all identical

FBgn0001186

336

RKKH

Celegans

all identical

F14B4.2

282

Xtropicalis

all identical

ENSXETG00000019003

261

protein features

start (aa)	end (aa)	feature	details
248	254	STRAND		might get lost (downstream of altered splice site)
256	256	MUTAGEN	E->A: Inactive enzyme.	might get lost (downstream of altered splice site)
256	256	BINDING	Substrate.	might get lost (downstream of altered splice site)
257	259	HELIX		might get lost (downstream of altered splice site)
260	263	TURN		might get lost (downstream of altered splice site)
267	269	HELIX		might get lost (downstream of altered splice site)
272	280	HELIX		might get lost (downstream of altered splice site)
281	283	STRAND		might get lost (downstream of altered splice site)
288	291	HELIX		might get lost (downstream of altered splice site)
290	290	BINDING	Substrate.	might get lost (downstream of altered splice site)
295	296	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
295	311	HELIX		might get lost (downstream of altered splice site)
316	318	HELIX		might get lost (downstream of altered splice site)
322	325	TURN		might get lost (downstream of altered splice site)
332	336	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
332	339	HELIX		might get lost (downstream of altered splice site)
340	342	STRAND		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)
346	354	HELIX		might get lost (downstream of altered splice site)
361	396	HELIX		might get lost (downstream of altered splice site)
400	409	STRAND		might get lost (downstream of altered splice site)
411	415	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
411	415	HELIX		might get lost (downstream of altered splice site)
414	414	MUTAGEN	K->A: Small change in activity.	might get lost (downstream of altered splice site)
416	418	STRAND		might get lost (downstream of altered splice site)
419	430	HELIX		might get lost (downstream of altered splice site)
434	440	STRAND		might get lost (downstream of altered splice site)
444	456	HELIX		might get lost (downstream of altered splice site)
457	459	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1347 / 1347

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

449 / 449

position of stopcodon in wt / mu cDNA

1381 / 1381

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

35 / 35

chromosome

strand

-1

last intron/exon boundary

1237

theoretical NMD boundary in CDS

1152

length of CDS

1347

coding sequence (CDS) position

730

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

764

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

50439

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

44187331

original gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

original cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

wildtype AA sequence

MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MMKHKKLPLG FTFSFPVRHE DIDKGILLNW TKGFKASGAE GNNVVGLLRD AIKRRGDFEM
DVVAMVNDTV ATMISCYYED HQCEVGMIVG TGCNACYMEE MQNVELVEGD EGRMCVNTEW
GAFGDSGELD EFLLEYDRLV DESSANPGQQ LYEKLIGGKY MGELVRLVLL RLVDENLLFH
GEASEQLRTR GAFETRFVSQ VESDTGDRKQ IYNILSTLGL RPSTTDCDIV RRACESVSTR
AAHMCSAGLA GVINRMRESR SEDVMRITVG VDGSVYKLHP SFKERFHASV RRLTPSCEIT
FIESEEGSGR GAALVSAVAC KKACMLGQ*

mutated AA sequence

MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MMKHKKLPLG FTFSFPVRHE DIDKGILLNW TKGFKASGAE GNNVVGLLRD AIKRRGDFEM
DVVAMVNDTV ATMISCYYED HQCEVGMIVG TGCNACYMEE MQNVELVEGD EGRMCVNTEW
GAFRDSGELD EFLLEYDRLV DESSANPGQQ LYEKLIGGKY MGELVRLVLL RLVDENLLFH
GEASEQLRTR GAFETRFVSQ VESDTGDRKQ IYNILSTLGL RPSTTDCDIV RRACESVSTR
AAHMCSAGLA GVINRMRESR SEDVMRITVG VDGSVYKLHP SFKERFHASV RRLTPSCEIT
FIESEEGSGR GAALVSAVAC KKACMLGQ*

speed

1.36 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: 0.999999999995125 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920306)
known disease mutation: rs16135 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:44187331C>TN/A show variant in all transcripts IGV

HGNC symbol

GCK

Ensembl transcript ID

ENST00000403799

Genbank transcript ID

NM_000162

UniProt peptide

P35557

alteration type

single base exchange

alteration region

CDS

DNA changes

c.781G>A
cDNA.1251G>A
g.50439G>A

AA changes

G261R Score: 125 explain score(s)

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

261

frameshift

known variant

Reference ID: rs104894008

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.917	1
	5.864	1
(flanking)	0.198	0.998

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 gained	50439	0.89	mu: CCTTCAGGGACTCCG	TTCA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

261

mutated

not conserved

261

Ptroglodytes

all identical

ENSPTRG00000019140

260

Mmulatta

all identical

ENSMMUG00000002427

262

Fcatus

all identical

ENSFCAG00000014361

246

Mmusculus

all identical

ENSMUSG00000041798

261

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068006

271

Dmelanogaster

all identical

FBgn0001186

336

RKKH

Celegans

all identical

F14B4.2

282

Xtropicalis

all identical

ENSXETG00000019003

261

protein features

start (aa)	end (aa)	feature	details
260	263	TURN		lost
267	269	HELIX		might get lost (downstream of altered splice site)
272	280	HELIX		might get lost (downstream of altered splice site)
281	283	STRAND		might get lost (downstream of altered splice site)
288	291	HELIX		might get lost (downstream of altered splice site)
290	290	BINDING	Substrate.	might get lost (downstream of altered splice site)
295	296	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
295	311	HELIX		might get lost (downstream of altered splice site)
316	318	HELIX		might get lost (downstream of altered splice site)
322	325	TURN		might get lost (downstream of altered splice site)
332	336	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
332	339	HELIX		might get lost (downstream of altered splice site)
340	342	STRAND		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)
346	354	HELIX		might get lost (downstream of altered splice site)
361	396	HELIX		might get lost (downstream of altered splice site)
400	409	STRAND		might get lost (downstream of altered splice site)
411	415	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
411	415	HELIX		might get lost (downstream of altered splice site)
414	414	MUTAGEN	K->A: Small change in activity.	might get lost (downstream of altered splice site)
416	418	STRAND		might get lost (downstream of altered splice site)
419	430	HELIX		might get lost (downstream of altered splice site)
434	440	STRAND		might get lost (downstream of altered splice site)
444	456	HELIX		might get lost (downstream of altered splice site)
457	459	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1398 / 1398

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

466 / 466

position of stopcodon in wt / mu cDNA

1868 / 1868

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

471 / 471

chromosome

strand

-1

last intron/exon boundary

1724

theoretical NMD boundary in CDS

1203

length of CDS

1398

coding sequence (CDS) position

781

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

1251

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

50439

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

44187331

original gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

original cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

wildtype AA sequence

MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*

mutated AA sequence

MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF RDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*

speed

1.32 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995125 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920306)
known disease mutation: rs16135 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:44187331C>TN/A show variant in all transcripts IGV

HGNC symbol

GCK

Ensembl transcript ID

ENST00000345378

Genbank transcript ID

NM_033507

UniProt peptide

P35557

alteration type

single base exchange

alteration region

CDS

DNA changes

c.784G>A
cDNA.946G>A
g.50439G>A

AA changes

G262R Score: 125 explain score(s)

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

262

frameshift

known variant

Reference ID: rs104894008

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.917	1
	5.864	1
(flanking)	0.198	0.998

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 gained	50439	0.89	mu: CCTTCAGGGACTCCG	TTCA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

262

mutated

not conserved

262

Ptroglodytes

all identical

ENSPTRG00000019140

260

Mmulatta

all identical

ENSMMUG00000002427

262

Fcatus

all identical

ENSFCAG00000014361

246

Mmusculus

all identical

ENSMUSG00000041798

261

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068006

271

Dmelanogaster

all identical

FBgn0001186

339

Celegans

all identical

F14B4.2

284

Xtropicalis

all identical

ENSXETG00000019003

261

protein features

start (aa)	end (aa)	feature	details
260	263	TURN		lost
267	269	HELIX		might get lost (downstream of altered splice site)
272	280	HELIX		might get lost (downstream of altered splice site)
281	283	STRAND		might get lost (downstream of altered splice site)
288	291	HELIX		might get lost (downstream of altered splice site)
290	290	BINDING	Substrate.	might get lost (downstream of altered splice site)
295	296	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
295	311	HELIX		might get lost (downstream of altered splice site)
316	318	HELIX		might get lost (downstream of altered splice site)
322	325	TURN		might get lost (downstream of altered splice site)
332	336	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
332	339	HELIX		might get lost (downstream of altered splice site)
340	342	STRAND		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)
346	354	HELIX		might get lost (downstream of altered splice site)
361	396	HELIX		might get lost (downstream of altered splice site)
400	409	STRAND		might get lost (downstream of altered splice site)
411	415	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
411	415	HELIX		might get lost (downstream of altered splice site)
414	414	MUTAGEN	K->A: Small change in activity.	might get lost (downstream of altered splice site)
416	418	STRAND		might get lost (downstream of altered splice site)
419	430	HELIX		might get lost (downstream of altered splice site)
434	440	STRAND		might get lost (downstream of altered splice site)
444	456	HELIX		might get lost (downstream of altered splice site)
457	459	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1401 / 1401

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

467 / 467

position of stopcodon in wt / mu cDNA

1563 / 1563

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

163 / 163

chromosome

strand

-1

last intron/exon boundary

1419

theoretical NMD boundary in CDS

1206

length of CDS

1401

coding sequence (CDS) position

784

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

946

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

50439

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

44187331

original gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

original cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

wildtype AA sequence

MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC ISDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FGDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*

mutated AA sequence

MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC ISDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FRDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*

speed

0.40 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999995125 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920306)
known disease mutation: rs16135 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:44187331C>TN/A show variant in all transcripts IGV

HGNC symbol

GCK

Ensembl transcript ID

ENST00000395796

Genbank transcript ID

NM_033508

UniProt peptide

P35557

alteration type

single base exchange

alteration region

CDS

DNA changes

c.778G>A
cDNA.1063G>A
g.50439G>A

AA changes

G260R Score: 125 explain score(s)

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

260

frameshift

known variant

Reference ID: rs104894008

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

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.917	1
	5.864	1
(flanking)	0.198	0.998

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 gained	50439	0.89	mu: CCTTCAGGGACTCCG	TTCA\|ggga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

260

mutated

not conserved

260

Ptroglodytes

all identical

ENSPTRG00000019140

260

Mmulatta

all identical

ENSMMUG00000002427

262

Fcatus

all identical

ENSFCAG00000014361

246

Mmusculus

all identical

ENSMUSG00000041798

261

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000068006

271

Dmelanogaster

all identical

FBgn0001186

336

KKH

Celegans

all identical

F14B4.2

279

Xtropicalis

all identical

ENSXETG00000019003

261

protein features

start (aa)	end (aa)	feature	details
260	263	TURN		lost
267	269	HELIX		might get lost (downstream of altered splice site)
272	280	HELIX		might get lost (downstream of altered splice site)
281	283	STRAND		might get lost (downstream of altered splice site)
288	291	HELIX		might get lost (downstream of altered splice site)
290	290	BINDING	Substrate.	might get lost (downstream of altered splice site)
295	296	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
295	311	HELIX		might get lost (downstream of altered splice site)
316	318	HELIX		might get lost (downstream of altered splice site)
322	325	TURN		might get lost (downstream of altered splice site)
332	336	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
332	339	HELIX		might get lost (downstream of altered splice site)
340	342	STRAND		might get lost (downstream of altered splice site)
343	345	STRAND		might get lost (downstream of altered splice site)
346	354	HELIX		might get lost (downstream of altered splice site)
361	396	HELIX		might get lost (downstream of altered splice site)
400	409	STRAND		might get lost (downstream of altered splice site)
411	415	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
411	415	HELIX		might get lost (downstream of altered splice site)
414	414	MUTAGEN	K->A: Small change in activity.	might get lost (downstream of altered splice site)
416	418	STRAND		might get lost (downstream of altered splice site)
419	430	HELIX		might get lost (downstream of altered splice site)
434	440	STRAND		might get lost (downstream of altered splice site)
444	456	HELIX		might get lost (downstream of altered splice site)
457	459	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1395 / 1395

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

465 / 465

position of stopcodon in wt / mu cDNA

1680 / 1680

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

286 / 286

chromosome

strand

-1

last intron/exon boundary

1536

theoretical NMD boundary in CDS

1200

length of CDS

1395

coding sequence (CDS) position

778

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

1063

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

50439

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

44187331

original gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered gDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

original cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGAC

altered cDNA sequence snippet

ATACCGAGTGGGGCGCCTTCAGGGACTCCGGCGAGCTGGAC

wildtype AA sequence

MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIS DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*

mutated AA sequence

MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIS DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFR DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*

speed

1.30 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