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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000393179
Querying Taster for transcript #2: ENST00000313546
Querying Taster for transcript #3: ENST00000549035
Querying Taster for transcript #4: ENST00000549504
Querying Taster for transcript #5: ENST00000541909
Querying Taster for transcript #6: ENST00000548729
Querying Taster for transcript #7: ENST00000547474
Querying Taster for transcript #8: ENST00000413530
Querying Taster for transcript #9: ENST00000529983
MT speed 0 s - this script 4.288105 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
POC1B-GALNT4	polymorphism_automatic	0.999680266743179	simple_aae		affected		V334I	single base exchange	rs2230283		show file
GALNT4	polymorphism_automatic	0.999749278245016	simple_aae		affected		V506I	single base exchange	rs2230283		show file
POC1B-GALNT4	polymorphism_automatic	0.999984583060513	simple_aae		affected		V503I	single base exchange	rs2230283		show file
POC1B	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file
POC1B	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file
POC1B	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file
POC1B-GALNT4	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file
POC1B	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file
POC1B	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2230283		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000319733256821371 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B-GALNT4

Ensembl transcript ID

ENST00000413530

Genbank transcript ID

NM_001199782

UniProt peptide

Q8N4A0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1000G>A
cDNA.1107G>A
g.3229G>A

AA changes

V334I Score: 29 explain score(s)

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

334

frameshift

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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 marginally increased	3222	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	3227	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor increased	3231	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	3220	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	3225	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

380

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

334

mutated

all conserved

334

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090035

506

Ggallus

no alignment

ENSGALG00000011215

n/a

Trubripes

all identical

ENSTRUG00000011585

512

Drerio

all identical

ENSDARG00000012745

511

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
36	578	TOPO_DOM	Lumenal (Potential).	lost
303	365	REGION	Catalytic subdomain B.	lost
444	577	DOMAIN	Ricin B-type lectin.	might get lost (downstream of altered splice site)
457	457	DISULFID	By similarity.	might get lost (downstream of altered splice site)
459	459	MUTAGEN	D->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.	might get lost (downstream of altered splice site)
471	471	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
477	477	DISULFID	By similarity.	might get lost (downstream of altered splice site)
503	503	DISULFID	By similarity.	might get lost (downstream of altered splice site)
518	518	DISULFID	By similarity.	might get lost (downstream of altered splice site)
547	547	DISULFID	By similarity.	might get lost (downstream of altered splice site)
565	565	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1221 / 1221

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

407 / 407

position of stopcodon in wt / mu cDNA

1328 / 1328

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

108 / 108

chromosome

strand

-1

last intron/exon boundary

468

theoretical NMD boundary in CDS

310

length of CDS

1221

coding sequence (CDS) position

1000

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

1107

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

3229

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered cDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

wildtype AA sequence

MAWCVATADP AHTSRPLFTG LAVSRGSAGH AWSAGFDWAA VVVVTGRRCR SGQTVPGAAR
SPLLPHPLPS PLRVPPPTGA LGRPLPRWPQ PRRTPFWSVI SKATKLRSPP WTSAPTASNL
ERDRRISRID PIRSPTMAGG LFAVSKKYFQ YLGTYDTGME VWGGENLELS FRVWQCGGKL
EIHPCSHVGH VFPKRAPYAR PNFLQNTARA AEVWMDEYKE HFYNRNPPAR KEAYGDISER
KLLRERLRCK SFDWYLKNVF PNLHVPEDRP GWHGAIRSRG ISSECLDYNS PDNNPTGANL
SLFGCHGQGG NQFFEYTSNK EIRFNSVTEL CAEVPEQKNY VGMQNCPKDG FPVPANIIWH
FKEDGTIFHP HSGLCLSAYR TPEGRPDVQM RTCDALDKNQ IWSFEK*

mutated AA sequence

MAWCVATADP AHTSRPLFTG LAVSRGSAGH AWSAGFDWAA VVVVTGRRCR SGQTVPGAAR
SPLLPHPLPS PLRVPPPTGA LGRPLPRWPQ PRRTPFWSVI SKATKLRSPP WTSAPTASNL
ERDRRISRID PIRSPTMAGG LFAVSKKYFQ YLGTYDTGME VWGGENLELS FRVWQCGGKL
EIHPCSHVGH VFPKRAPYAR PNFLQNTARA AEVWMDEYKE HFYNRNPPAR KEAYGDISER
KLLRERLRCK SFDWYLKNVF PNLHVPEDRP GWHGAIRSRG ISSECLDYNS PDNNPTGANL
SLFGCHGQGG NQFFEYTSNK EIRFNSVTEL CAEIPEQKNY VGMQNCPKDG FPVPANIIWH
FKEDGTIFHP HSGLCLSAYR TPEGRPDVQM RTCDALDKNQ IWSFEK*

speed

0.16 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: 0.000250721754984067 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

GALNT4

Ensembl transcript ID

ENST00000529983

Genbank transcript ID

NM_003774

UniProt peptide

Q8N4A0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1516G>A
cDNA.1773G>A
g.1773G>A

AA changes

V506I Score: 29 explain score(s)

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

506

frameshift

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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 marginally increased	1766	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	1764	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor marginally increased	1771	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor increased	1775	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor gained	1769	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

1773

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

506

mutated

all conserved

506

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090035

506

Ggallus

no alignment

ENSGALG00000011215

n/a

Trubripes

all identical

ENSTRUG00000011585

512

Drerio

all identical

ENSDARG00000012745

511

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
36	578	TOPO_DOM	Lumenal (Potential).	lost
444	577	DOMAIN	Ricin B-type lectin.	lost
518	518	DISULFID	By similarity.	might get lost (downstream of altered splice site)
547	547	DISULFID	By similarity.	might get lost (downstream of altered splice site)
565	565	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1737 / 1737

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

579 / 579

position of stopcodon in wt / mu cDNA

1994 / 1994

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

258 / 258

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1737

coding sequence (CDS) position

1516

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

1773

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

1773

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered cDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

wildtype AA sequence

MAVRWTWAGK SCLLLAFLTV AYIFVELLVS TFHASAGAGR ARELGSRRLS DLQKNTEDLS
RPLYKKPPAD SRALGEWGKA SKLQLNEDEL KQQEELIERY AINIYLSDRI SLHRHIEDKR
MYECKSQKFN YRTLPTTSVI IAFYNEAWST LLRTIHSVLE TSPAVLLKEI ILVDDLSDRV
YLKTQLETYI SNLDRVRLIR TNKREGLVRA RLIGATFATG DVLTFLDCHC ECNSGWLEPL
LERIGRDETA VVCPVIDTID WNTFEFYMQI GEPMIGGFDW RLTFQWHSVP KQERDRRISR
IDPIRSPTMA GGLFAVSKKY FQYLGTYDTG MEVWGGENLE LSFRVWQCGG KLEIHPCSHV
GHVFPKRAPY ARPNFLQNTA RAAEVWMDEY KEHFYNRNPP ARKEAYGDIS ERKLLRERLR
CKSFDWYLKN VFPNLHVPED RPGWHGAIRS RGISSECLDY NSPDNNPTGA NLSLFGCHGQ
GGNQFFEYTS NKEIRFNSVT ELCAEVPEQK NYVGMQNCPK DGFPVPANII WHFKEDGTIF
HPHSGLCLSA YRTPEGRPDV QMRTCDALDK NQIWSFEK*

mutated AA sequence

MAVRWTWAGK SCLLLAFLTV AYIFVELLVS TFHASAGAGR ARELGSRRLS DLQKNTEDLS
RPLYKKPPAD SRALGEWGKA SKLQLNEDEL KQQEELIERY AINIYLSDRI SLHRHIEDKR
MYECKSQKFN YRTLPTTSVI IAFYNEAWST LLRTIHSVLE TSPAVLLKEI ILVDDLSDRV
YLKTQLETYI SNLDRVRLIR TNKREGLVRA RLIGATFATG DVLTFLDCHC ECNSGWLEPL
LERIGRDETA VVCPVIDTID WNTFEFYMQI GEPMIGGFDW RLTFQWHSVP KQERDRRISR
IDPIRSPTMA GGLFAVSKKY FQYLGTYDTG MEVWGGENLE LSFRVWQCGG KLEIHPCSHV
GHVFPKRAPY ARPNFLQNTA RAAEVWMDEY KEHFYNRNPP ARKEAYGDIS ERKLLRERLR
CKSFDWYLKN VFPNLHVPED RPGWHGAIRS RGISSECLDY NSPDNNPTGA NLSLFGCHGQ
GGNQFFEYTS NKEIRFNSVT ELCAEIPEQK NYVGMQNCPK DGFPVPANII WHFKEDGTIF
HPHSGLCLSA YRTPEGRPDV QMRTCDALDK NQIWSFEK*

speed

0.19 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1.54169394872985e-05 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B-GALNT4

Ensembl transcript ID

ENST00000548729

Genbank transcript ID

NM_001199781

UniProt peptide

Q8N4A0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1507G>A
cDNA.1810G>A
g.3229G>A

AA changes

V503I Score: 29 explain score(s)

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

503

frameshift

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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 marginally increased	3222	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	3227	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor increased	3231	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	3220	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	3225	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

1407

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

503

mutated

all conserved

503

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090035

506

Ggallus

no alignment

ENSGALG00000011215

n/a

Trubripes

all identical

ENSTRUG00000011585

512

Drerio

all identical

ENSDARG00000012745

511

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
36	578	TOPO_DOM	Lumenal (Potential).	lost
444	577	DOMAIN	Ricin B-type lectin.	lost
503	503	DISULFID	By similarity.	lost
518	518	DISULFID	By similarity.	might get lost (downstream of altered splice site)
547	547	DISULFID	By similarity.	might get lost (downstream of altered splice site)
565	565	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1728 / 1728

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

576 / 576

position of stopcodon in wt / mu cDNA

2031 / 2031

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

304 / 304

chromosome

strand

-1

last intron/exon boundary

404

theoretical NMD boundary in CDS

length of CDS

1728

coding sequence (CDS) position

1507

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

1810

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

3229

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered cDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

wildtype AA sequence

MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQIGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEVPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*

mutated AA sequence

MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQIGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEIPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*

speed

0.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000393179

Genbank transcript ID

N/A

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change before start ATG (at aa -38) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	COILED	Potential.	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

615 / 615

chromosome

strand

-1

last intron/exon boundary

1557

theoretical NMD boundary in CDS

892

length of CDS

1047

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN NFSDSVGFAN
FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG NYLITASSDG
TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN FDELHCKGLT
KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP VMDILSFDST
TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES QRSIPLAVTD
ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS*

mutated AA sequence

N/A

speed

0.22 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000313546

Genbank transcript ID

NM_172240

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	COILED	Potential.	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

130 / 130

chromosome

strand

-1

last intron/exon boundary

1462

theoretical NMD boundary in CDS

1282

length of CDS

1437

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLATASWDT FLMLWNFKPH ARAYRYVGHK
DVVTSVQFSP HGNLLASASR DRTVRLWIPD KRGKFSEFKA HTAPVRSVDF SADGQFLATA
SEDKSIKVWS MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN
NFSDSVGFAN FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG
NYLITASSDG TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN
FDELHCKGLT KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP
VMDILSFDST TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES
QRSIPLAVTD ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS*

mutated AA sequence

N/A

speed

0.86 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000549035

Genbank transcript ID

NM_001199777

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change before start ATG (at aa -8) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	COILED	Potential.	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

471 / 471

chromosome

strand

-1

last intron/exon boundary

1677

theoretical NMD boundary in CDS

1156

length of CDS

1311

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLWNFKPHAR AYRYVGHKDV VTSVQFSPHG NLLASASRDR TVRLWIPDKR GKFSEFKAHT
APVRSVDFSA DGQFLATASE DKSIKVWSMY RQRFLYSLYR HTHWVRCAKF SPDGRLIVSC
SEDKTIKIWD TTNKQCVNNF SDSVGFANFV DFNPSGTCIA SAGSDQTVKV WDVRVNKLLQ
HYQVHSGGVN CISFHPSGNY LITASSDGTL KILDLLEGRL IYTLQGHTGP VFTVSFSKGG
ELFASGGADT QVLLWRTNFD ELHCKGLTKR NLKRLHFDSP PHLLDIYPRT PHPHEEKVET
VEINPKLEVI DLQISTPPVM DILSFDSTTT TETSGRTLPD KGEEACGYFL NPSLMSPECL
PTTTKKKTED MSDLPCESQR SIPLAVTDAL EHIMEQLNVL TQTVSILEQR LTLTEDKLKD
CLENQQKLFS AVQQKS*

mutated AA sequence

N/A

speed

0.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B-GALNT4

Ensembl transcript ID

ENST00000547474

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1107G>A
g.3229G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change occurs after stopcodon (at aa 246) splice site change occurs after stopcodon (at aa 248)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	3222	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	3227	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor increased	3231	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	3220	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	3225	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

640

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

368 / 368

chromosome

strand

-1

last intron/exon boundary

468

theoretical NMD boundary in CDS

length of CDS

129

coding sequence (CDS) position

N/A

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

1107

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

3229

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered cDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

wildtype AA sequence

MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGKGQADI KN*

mutated AA sequence

N/A

speed

0.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000549504

Genbank transcript ID

N/A

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change before start ATG (at aa -38) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	COILED	Potential.	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

205 / 205

chromosome

strand

-1

last intron/exon boundary

489

theoretical NMD boundary in CDS

234

length of CDS

282

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MYRQRFLYSL YRHTHWVRCA KDLSLLFHFQ KVESYLHQEV QTHRSYYGGL TLMNCIVKVL
PKEISKDYIL IHHHIFLIST QEHHIPMRKK LRL*

mutated AA sequence

N/A

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 6.50949668021815e-58 (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)

chr12:89916811C>TN/A show variant in all transcripts IGV

HGNC symbol

POC1B

Ensembl transcript ID

ENST00000541909

Genbank transcript ID

N/A

UniProt peptide

Q8TC44

alteration type

single base exchange

alteration region

intron

DNA changes

g.2991G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2230283

database	homozygous (T/T)	heterozygous	allele carriers
1000G	138	752	890
ExAC	4928	22911	27839

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.245	0.992
	5.653	0.996
(flanking)	0.219	0.536

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

splice sites

splice site change before start ATG (at aa -38) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	2993	wt: 0.27 / mu: 0.66	wt: GAGGTACCTGAGCAA mu: GAGATACCTGAGCAA	GGTA\|cctg
Donor marginally increased	2984	wt: 0.9712 / mu: 0.9751 (marginal change - not scored)	wt: TTATGTGCAGAGGTA mu: TTATGTGCAGAGATA	ATGT\|gcag
Donor marginally increased	2989	wt: 0.9004 / mu: 0.9102 (marginal change - not scored)	wt: TGCAGAGGTACCTGA mu: TGCAGAGATACCTGA	CAGA\|ggta
Donor marginally increased	2982	wt: 0.2734 / mu: 0.2799 (marginal change - not scored)	wt: AGTTATGTGCAGAGG mu: AGTTATGTGCAGAGA	TTAT\|gtgc
Donor gained	2987	0.74	mu: TGTGCAGAGATACCT	TGCA\|gaga

distance from splice site

2086

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
16	55	REPEAT	WD 1.	might get lost (downstream of altered splice site)
58	99	REPEAT	WD 2.	might get lost (downstream of altered splice site)
101	139	REPEAT	WD 3.	might get lost (downstream of altered splice site)
142	181	REPEAT	WD 4.	might get lost (downstream of altered splice site)
183	223	REPEAT	WD 5.	might get lost (downstream of altered splice site)
226	265	REPEAT	WD 6.	might get lost (downstream of altered splice site)
268	307	REPEAT	WD 7.	might get lost (downstream of altered splice site)
321	321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
370	375	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
414	414	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
431	470	COILED	Potential.	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

324 / 324

chromosome

strand

-1

last intron/exon boundary

1289

theoretical NMD boundary in CDS

915

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)

2991

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

89916811

original gDNA sequence snippet

TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT

altered gDNA sequence snippet

TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.86 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems