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: ENST00000400427
Querying Taster for transcript #2: ENST00000400424
Querying Taster for transcript #3: ENST00000408989
Querying Taster for transcript #4: ENST00000408910
MT speed 0 s - this script 5.013996 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
UMODL1	polymorphism_automatic	2.99760216648792e-15	simple_aae		affected		R619G	single base exchange	rs220127		show file
UMODL1	polymorphism_automatic	2.99760216648792e-15	simple_aae		affected		R691G	single base exchange	rs220127		show file
UMODL1	polymorphism_automatic	8.17417450393876e-08	without_aae		affected			single base exchange	rs220127		show file
UMODL1	polymorphism_automatic	8.17417450393876e-08	without_aae		affected			single base exchange	rs220127		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999997 (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)

chr21:43531403C>GN/A show variant in all transcripts IGV

HGNC symbol

UMODL1

Ensembl transcript ID

ENST00000400427

Genbank transcript ID

NM_001199527

UniProt peptide

Q5DID0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1855C>G
cDNA.2251C>G
g.48336C>G

AA changes

R619G Score: 125 explain score(s)

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

619

frameshift

known variant

Reference ID: rs220127

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1407	805	2212
ExAC	20307	-7847	12460

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.202	0
	-0.66	0
(flanking)	0.171	0

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	48330	wt: 0.63 / mu: 0.99	wt: ACCCCAGCCAGCGGA mu: ACCCCAGCCAGGGGA	CCCA\|gcca

distance from splice site

414

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

619

mutated

not conserved

619

Ptroglodytes

not conserved

ENSPTRG00000013936

686

STSHANSSQGS

Mmulatta

not conserved

ENSMMUG00000018057

691

Fcatus

not conserved

ENSFCAG00000012699

627

Mmusculus

all conserved

ENSMUSG00000054134

662

Ggallus

not conserved

ENSGALG00000016157

536

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000027055

664

KLRKPPQV

protein features

start (aa)	end (aa)	feature	details
22	1272	TOPO_DOM	Extracellular (Potential).	lost
703	787	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
713	713	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
787	890	DOMAIN	SEA 2.	might get lost (downstream of altered splice site)
897	938	DOMAIN	EGF-like 3; calcium-binding (Potential).	might get lost (downstream of altered splice site)
901	901	DISULFID	By similarity.	might get lost (downstream of altered splice site)
908	908	DISULFID	By similarity.	might get lost (downstream of altered splice site)
914	914	DISULFID	By similarity.	might get lost (downstream of altered splice site)
923	923	DISULFID	By similarity.	might get lost (downstream of altered splice site)
984	984	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
992	1235	DOMAIN	ZP.	might get lost (downstream of altered splice site)
1050	1050	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1157	1157	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1215	1215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1273	1293	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1294	1318	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4125 / 4125

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

1375 / 1375

position of stopcodon in wt / mu cDNA

4521 / 4521

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

397 / 397

chromosome

strand

last intron/exon boundary

4543

theoretical NMD boundary in CDS

4096

length of CDS

4125

coding sequence (CDS) position

1855

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

2251

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

48336

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

43531403

original gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

original cDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered cDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

wildtype AA sequence

MVYRTQYLVV EVPESRNVTD CCEGYEQLGL YCVLPLNQSG QFTSRPGACP AEGPEPSTSP
CSLDIDCPGL EKCCPWSGGR YCMAPAPQAP ERDPVGSWYN VTILVKMDFK ELQQVDPRLL
NHMRLLHSLV TSALQPMAST VHHLHSAPGN ASTTVSRLLL GLPRPLPVAD VSTLLGDIAK
RVYEVISVQV QDVNECFYEE LNACSGRELC ANLEGSYWCV CHQEAPATSP RKLNLEWEDC
PPVSDYVVLN VTSDSFQVSW RLNSTQNHTF HVRVYRGMEL LRSARTQSQA LAVAGLEAGV
LYRVKTSYQG CGADVSTTLT IKTNAQVFEV TIKIVNHNLT EKLLNRSSVE YQDFSRQLLH
EVESSFPPVV SDLYRSGKLR MQIVSLQAGS VVVRLKLTVQ DPGFPMGIST LAPILQPLLA
STVFQIDRQG TRVQDWDECV DSAEHDCSPA AWCINLEGSY TCQCRTTRDA TPSRAGRACE
GDLVSPMGGG LSAATGVTVP GLGTGTAALG LENFTLSPSP GYPQGTPAAG QAWTPEPSPR
RGGSNVVGYD RNNTGKGVEQ EVPSTAPGLG MDQGSPSQVN PSQGSPSQGS LRQESTSQAS
PSQRSTSQGS PSQVNPSQRS TSHANSSQGS PSQGSPSQES PSQGSTSQAS PSHRNTIGVI
GTTSSPKATG STHSFPPGAT DGPLALPGQL QGNSIMEPPS WPSPTEDPTG HFLWHATRST
RETLLNPTWL RNEDSGPSGS VDLPLTSTLT ALKTPACVPV SIGRIMVSNV TSTGFHLAWE
ADLAMDSTFQ LTLTSMWSPA VVLETWNTSV TLSGLEPGVL HLVEIMAKAC GKEGARAHLK
VRTAARKLIG KVRIKNVRYS ESFRNASSQE YRDFLELFFR MVRGSLPATM CQHMDAGGVR
MEVVSVTNGS IVVEFHLLII ADVDVQEVSA AFLTAFQTVP LLEVIRGDTF IQDYDECERK
EDDCVPGTSC RNTLGSFTCS CEGGAPDFPV EYSERPCEGD SPGNETWATS PERPLTTAGT
KAAFVQGTSP TPQGLPQRLN LTGAVRVLCE IEKVVVAIQK RFLQQESIPE SSLYLSHPSC
NVSHSNGTHV LLEAGWSECG TLMQSNMTNT VVRTTLRNDL SQEGIIHHLK ILSPIYCAFQ
NDLLTSSGFT LEWGVYTIIE DLHGAGNFVT EMQLFIGDSP IPQNYSVSAS DDVRIEVGLY
RQKSNLKVVL TECWATPSSN ARDPITFSFI NNSCPVPNTY TNVIENGNSN KAQFKLRIFS
FINDSIVYLH CKLRVCMESP GATCKINCNN FRLLQNSETS ATHQMSWGPL IRSEGEPPHA
EAGLGAGYVV LIVVAIFVLV AGTATLLIVR YQRMNGRYNF KIQSNNFSYQ VFYE*

mutated AA sequence

MVYRTQYLVV EVPESRNVTD CCEGYEQLGL YCVLPLNQSG QFTSRPGACP AEGPEPSTSP
CSLDIDCPGL EKCCPWSGGR YCMAPAPQAP ERDPVGSWYN VTILVKMDFK ELQQVDPRLL
NHMRLLHSLV TSALQPMAST VHHLHSAPGN ASTTVSRLLL GLPRPLPVAD VSTLLGDIAK
RVYEVISVQV QDVNECFYEE LNACSGRELC ANLEGSYWCV CHQEAPATSP RKLNLEWEDC
PPVSDYVVLN VTSDSFQVSW RLNSTQNHTF HVRVYRGMEL LRSARTQSQA LAVAGLEAGV
LYRVKTSYQG CGADVSTTLT IKTNAQVFEV TIKIVNHNLT EKLLNRSSVE YQDFSRQLLH
EVESSFPPVV SDLYRSGKLR MQIVSLQAGS VVVRLKLTVQ DPGFPMGIST LAPILQPLLA
STVFQIDRQG TRVQDWDECV DSAEHDCSPA AWCINLEGSY TCQCRTTRDA TPSRAGRACE
GDLVSPMGGG LSAATGVTVP GLGTGTAALG LENFTLSPSP GYPQGTPAAG QAWTPEPSPR
RGGSNVVGYD RNNTGKGVEQ EVPSTAPGLG MDQGSPSQVN PSQGSPSQGS LRQESTSQAS
PSQRSTSQGS PSQVNPSQGS TSHANSSQGS PSQGSPSQES PSQGSTSQAS PSHRNTIGVI
GTTSSPKATG STHSFPPGAT DGPLALPGQL QGNSIMEPPS WPSPTEDPTG HFLWHATRST
RETLLNPTWL RNEDSGPSGS VDLPLTSTLT ALKTPACVPV SIGRIMVSNV TSTGFHLAWE
ADLAMDSTFQ LTLTSMWSPA VVLETWNTSV TLSGLEPGVL HLVEIMAKAC GKEGARAHLK
VRTAARKLIG KVRIKNVRYS ESFRNASSQE YRDFLELFFR MVRGSLPATM CQHMDAGGVR
MEVVSVTNGS IVVEFHLLII ADVDVQEVSA AFLTAFQTVP LLEVIRGDTF IQDYDECERK
EDDCVPGTSC RNTLGSFTCS CEGGAPDFPV EYSERPCEGD SPGNETWATS PERPLTTAGT
KAAFVQGTSP TPQGLPQRLN LTGAVRVLCE IEKVVVAIQK RFLQQESIPE SSLYLSHPSC
NVSHSNGTHV LLEAGWSECG TLMQSNMTNT VVRTTLRNDL SQEGIIHHLK ILSPIYCAFQ
NDLLTSSGFT LEWGVYTIIE DLHGAGNFVT EMQLFIGDSP IPQNYSVSAS DDVRIEVGLY
RQKSNLKVVL TECWATPSSN ARDPITFSFI NNSCPVPNTY TNVIENGNSN KAQFKLRIFS
FINDSIVYLH CKLRVCMESP GATCKINCNN FRLLQNSETS ATHQMSWGPL IRSEGEPPHA
EAGLGAGYVV LIVVAIFVLV AGTATLLIVR YQRMNGRYNF KIQSNNFSYQ VFYE*

speed

1.01 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: 0.999999999999997 (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)

chr21:43531403C>GN/A show variant in all transcripts IGV

HGNC symbol

UMODL1

Ensembl transcript ID

ENST00000408989

Genbank transcript ID

NM_173568

UniProt peptide

Q5DID0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2071C>G
cDNA.2071C>G
g.48336C>G

AA changes

R691G Score: 125 explain score(s)

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

691

frameshift

known variant

Reference ID: rs220127

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1407	805	2212
ExAC	20307	-7847	12460

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.202	0
	-0.66	0
(flanking)	0.171	0

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	48330	wt: 0.63 / mu: 0.99	wt: ACCCCAGCCAGCGGA mu: ACCCCAGCCAGGGGA	CCCA\|gcca

distance from splice site

414

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

691

mutated

not conserved

691

Ptroglodytes

not conserved

ENSPTRG00000013936

686

Mmulatta

not conserved

ENSMMUG00000018057

691

Fcatus

not conserved

ENSFCAG00000012699

627

Mmusculus

all conserved

ENSMUSG00000054134

675

Ggallus

not conserved

ENSGALG00000016157

536

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000027055

664

KLRKPPQV

protein features

start (aa)	end (aa)	feature	details
22	1272	TOPO_DOM	Extracellular (Potential).	lost
703	787	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
713	713	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
787	890	DOMAIN	SEA 2.	might get lost (downstream of altered splice site)
897	938	DOMAIN	EGF-like 3; calcium-binding (Potential).	might get lost (downstream of altered splice site)
901	901	DISULFID	By similarity.	might get lost (downstream of altered splice site)
908	908	DISULFID	By similarity.	might get lost (downstream of altered splice site)
914	914	DISULFID	By similarity.	might get lost (downstream of altered splice site)
923	923	DISULFID	By similarity.	might get lost (downstream of altered splice site)
984	984	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
992	1235	DOMAIN	ZP.	might get lost (downstream of altered splice site)
1050	1050	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1157	1157	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1215	1215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1273	1293	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1294	1318	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4341 / 4341

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

1447 / 1447

position of stopcodon in wt / mu cDNA

4341 / 4341

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

1 / 1

chromosome

strand

last intron/exon boundary

4363

theoretical NMD boundary in CDS

4312

length of CDS

4341

coding sequence (CDS) position

2071

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

2071

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

48336

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

43531403

original gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

original cDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered cDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

wildtype AA sequence

MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQEVPSTAPG LGMDQGSPSQ VNPSQGSPSQ
GSLRQESTSQ ASPSQRSTSQ GSPSQVNPSQ RSTSHANSSQ GSPSQGSPSQ ESPSQGSTSQ
ASPSHRNTIG VIGTTSSPKA TGSTHSFPPG ATDGPLALPG QLQGNSIMEP PSWPSPTEDP
TGHFLWHATR STRETLLNPT WLRNEDSGPS GSVDLPLTST LTALKTPACV PVSIGRIMVS
NVTSTGFHLA WEADLAMDST FQLTLTSMWS PAVVLETWNT SVTLSGLEPG VLHLVEIMAK
ACGKEGARAH LKVRTAARKL IGKVRIKNVR YSESFRNASS QEYRDFLELF FRMVRGSLPA
TMCQHMDAGG VRMEVVSVTN GSIVVEFHLL IIADVDVQEV SAAFLTAFQT VPLLEVIRGD
TFIQDYDECE RKEDDCVPGT SCRNTLGSFT CSCEGGAPDF PVEYSERPCE GDSPGNETWA
TSPERPLTTA GTKAAFVQGT SPTPQGLPQR LNLTGAVRVL CEIEKVVVAI QKRFLQQESI
PESSLYLSHP SCNVSHSNGT HVLLEAGWSE CGTLMQSNMT NTVVRTTLRN DLSQEGIIHH
LKILSPIYCA FQNDLLTSSG FTLEWGVYTI IEDLHGAGNF VTEMQLFIGD SPIPQNYSVS
ASDDVRIEVG LYRQKSNLKV VLTECWATPS SNARDPITFS FINNSCPVPN TYTNVIENGN
SNKAQFKLRI FSFINDSIVY LHCKLRVCME SPGATCKINC NNFRLLQNSE TSATHQMSWG
PLIRSEGEPP HAEAGLGAGY VVLIVVAIFV LVAGTATLLI VRYQRMNGRY NFKIQSNNFS
YQVFYE*

mutated AA sequence

MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQEVPSTAPG LGMDQGSPSQ VNPSQGSPSQ
GSLRQESTSQ ASPSQRSTSQ GSPSQVNPSQ GSTSHANSSQ GSPSQGSPSQ ESPSQGSTSQ
ASPSHRNTIG VIGTTSSPKA TGSTHSFPPG ATDGPLALPG QLQGNSIMEP PSWPSPTEDP
TGHFLWHATR STRETLLNPT WLRNEDSGPS GSVDLPLTST LTALKTPACV PVSIGRIMVS
NVTSTGFHLA WEADLAMDST FQLTLTSMWS PAVVLETWNT SVTLSGLEPG VLHLVEIMAK
ACGKEGARAH LKVRTAARKL IGKVRIKNVR YSESFRNASS QEYRDFLELF FRMVRGSLPA
TMCQHMDAGG VRMEVVSVTN GSIVVEFHLL IIADVDVQEV SAAFLTAFQT VPLLEVIRGD
TFIQDYDECE RKEDDCVPGT SCRNTLGSFT CSCEGGAPDF PVEYSERPCE GDSPGNETWA
TSPERPLTTA GTKAAFVQGT SPTPQGLPQR LNLTGAVRVL CEIEKVVVAI QKRFLQQESI
PESSLYLSHP SCNVSHSNGT HVLLEAGWSE CGTLMQSNMT NTVVRTTLRN DLSQEGIIHH
LKILSPIYCA FQNDLLTSSG FTLEWGVYTI IEDLHGAGNF VTEMQLFIGD SPIPQNYSVS
ASDDVRIEVG LYRQKSNLKV VLTECWATPS SNARDPITFS FINNSCPVPN TYTNVIENGN
SNKAQFKLRI FSFINDSIVY LHCKLRVCME SPGATCKINC NNFRLLQNSE TSATHQMSWG
PLIRSEGEPP HAEAGLGAGY VVLIVVAIFV LVAGTATLLI VRYQRMNGRY NFKIQSNNFS
YQVFYE*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999918258255 (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)

chr21:43531403C>GN/A show variant in all transcripts IGV

HGNC symbol

UMODL1

Ensembl transcript ID

ENST00000400424

Genbank transcript ID

NM_001199528

UniProt peptide

Q5DID0

alteration type

single base exchange

alteration region

intron

DNA changes

g.48336C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs220127

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1407	805	2212
ExAC	20307	-7847	12460

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.202	0
	-0.66	0
(flanking)	0.171	0

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	48330	wt: 0.63 / mu: 0.99	wt: ACCCCAGCCAGCGGA mu: ACCCCAGCCAGGGGA	CCCA\|gcca

distance from splice site

172

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
22	1272	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
585	585	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
703	787	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
713	713	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
787	890	DOMAIN	SEA 2.	might get lost (downstream of altered splice site)
897	938	DOMAIN	EGF-like 3; calcium-binding (Potential).	might get lost (downstream of altered splice site)
901	901	DISULFID	By similarity.	might get lost (downstream of altered splice site)
908	908	DISULFID	By similarity.	might get lost (downstream of altered splice site)
914	914	DISULFID	By similarity.	might get lost (downstream of altered splice site)
923	923	DISULFID	By similarity.	might get lost (downstream of altered splice site)
984	984	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
992	1235	DOMAIN	ZP.	might get lost (downstream of altered splice site)
1050	1050	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1157	1157	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1215	1215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1273	1293	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1294	1318	TOPO_DOM	Cytoplasmic (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

397 / 397

chromosome

strand

last intron/exon boundary

4159

theoretical NMD boundary in CDS

3712

length of CDS

3741

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)

48336

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

43531403

original gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVYRTQYLVV EVPESRNVTD CCEGYEQLGL YCVLPLNQSG QFTSRPGACP AEGPEPSTSP
CSLDIDCPGL EKCCPWSGGR YCMAPAPQAP ERDPVGSWYN VTILVKMDFK ELQQVDPRLL
NHMRLLHSLV TSALQPMAST VHHLHSAPGN ASTTVSRLLL GLPRPLPVAD VSTLLGDIAK
RVYEVISVQV QDVNECFYEE LNACSGRELC ANLEGSYWCV CHQEAPATSP RKLNLEWEDC
PPVSDYVVLN VTSDSFQVSW RLNSTQNHTF HVRVYRGMEL LRSARTQSQA LAVAGLEAGV
LYRVKTSYQG CGADVSTTLT IKTNAQVFEV TIKIVNHNLT EKLLNRSSVE YQDFSRQLLH
EVESSFPPVV SDLYRSGKLR MQIVSLQAGS VVVRLKLTVQ DPGFPMGIST LAPILQPLLA
STVFQIDRQG TRVQDWDECV DSAEHDCSPA AWCINLEGSY TCQCRTTRDA TPSRAGRACE
GDLVSPMGGG LSAATGVTVP GLGTGTAALG LENFTLSPSP GYPQGTPAAG QAWTPEPSPR
RGGSNVVGYD RNNTGKGVEQ ELQGNSIMEP PSWPSPTEDP TGHFLWHATR STRETLLNPT
WLRNEDSGPS GSVDLPLTST LTALKTPACV PVSIGRIMVS NVTSTGFHLA WEADLAMDST
FQLTLTSMWS PAVVLETWNT SVTLSGLEPG VLHLVEIMAK ACGKEGARAH LKVRTAARKL
IGKVRIKNVR YSESFRNASS QEYRDFLELF FRMVRGSLPA TMCQHMDAGG VRMEVVSVTN
GSIVVEFHLL IIADVDVQEV SAAFLTAFQT VPLLEVIRGD TFIQDYDECE RKEDDCVPGT
SCRNTLGSFT CSCEGGAPDF PVEYSERPCE GDSPGNETWA TSPERPLTTA GTKAAFVQGT
SPTPQGLPQR LNLTGAVRVL CEIEKVVVAI QKRFLQQESI PESSLYLSHP SCNVSHSNGT
HVLLEAGWSE CGTLMQSNMT NTVVRTTLRN DLSQEGIIHH LKILSPIYCA FQNDLLTSSG
FTLEWGVYTI IEDLHGAGNF VTEMQLFIGD SPIPQNYSVS ASDDVRIEVG LYRQKSNLKV
VLTECWATPS SNARDPITFS FINNSCPVPN TYTNVIENGN SNKAQFKLRI FSFINDSIVY
LHCKLRVCME SPGATCKINC NNFRLLQNSE TSATHQMSWG PLIRSEGEPP HAEAGLGAGY
VVLIVVAIFV LVAGTATLLI VRYQRMNGRY NFKIQSNNFS YQVFYE*

mutated AA sequence

N/A

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999918258255 (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)

chr21:43531403C>GN/A show variant in all transcripts IGV

HGNC symbol

UMODL1

Ensembl transcript ID

ENST00000408910

Genbank transcript ID

NM_001004416

UniProt peptide

Q5DID0

alteration type

single base exchange

alteration region

intron

DNA changes

g.48336C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs220127

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1407	805	2212
ExAC	20307	-7847	12460

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.202	0
	-0.66	0
(flanking)	0.171	0

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	48330	wt: 0.63 / mu: 0.99	wt: ACCCCAGCCAGCGGA mu: ACCCCAGCCAGGGGA	CCCA\|gcca

distance from splice site

172

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
22	1272	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
703	787	DOMAIN	Fibronectin type-III 2.	might get lost (downstream of altered splice site)
713	713	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
787	890	DOMAIN	SEA 2.	might get lost (downstream of altered splice site)
897	938	DOMAIN	EGF-like 3; calcium-binding (Potential).	might get lost (downstream of altered splice site)
901	901	DISULFID	By similarity.	might get lost (downstream of altered splice site)
908	908	DISULFID	By similarity.	might get lost (downstream of altered splice site)
914	914	DISULFID	By similarity.	might get lost (downstream of altered splice site)
923	923	DISULFID	By similarity.	might get lost (downstream of altered splice site)
984	984	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
992	1235	DOMAIN	ZP.	might get lost (downstream of altered splice site)
1050	1050	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1157	1157	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1215	1215	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1273	1293	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1294	1318	TOPO_DOM	Cytoplasmic (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

1 / 1

chromosome

strand

last intron/exon boundary

3979

theoretical NMD boundary in CDS

3928

length of CDS

3957

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)

48336

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

43531403

original gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGCGGAGCACCAGCCACGCGAAC

altered gDNA sequence snippet

GCCAGGTGAACCCCAGCCAGGGGAGCACCAGCCACGCGAAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLRTSGLALL ALVSAVGPSQ ASGFTEKGLS LLGYQLCSHR VTHTVQKVEA VQTSYTSYVS
CGGWIPWRRC PKMVYRTQYL VVEVPESRNV TDCCEGYEQL GLYCVLPLNQ SGQFTSRPGA
CPAEGPEPST SPCSLDIDCP GLEKCCPWSG GRYCMAPAPQ APERDPVGSW YNVTILVKMD
FKELQQVDPR LLNHMRLLHS LVTSALQPMA STVHHLHSAP GNASTTVSRL LLGLPRPLPV
ADVSTLLGDI AKRVYEVISV QVQDVNECFY EELNACSGRE LCANLEGSYW CVCHQEAPAT
SPRKLNLEWE DCPPVSDYVV LNVTSDSFQV SWRLNSTQNH TFHVRVYRGM ELLRSARTQS
QALAVAGLEA GVLYRVKTSY QGCGADVSTT LTIKTNAQVF EVTIKIVNHN LTEKLLNRSS
VEYQDFSRQL LHEVESSFPP VVSDLYRSGK LRMQIVSLQA GSVVVRLKLT VQDPGFPMGI
STLAPILQPL LASTVFQIDR QGTRVQDWDE CVDSAEHDCS PAAWCINLEG SYTCQCRTTR
DATPSRAGRA CEGDLVSPMG GGLSAATGVT VPGLGTGTAA LGLENFTLSP SPGYPQGTPA
AGQAWTPEPS PRRGGSNVVG YDRNNTGKGV EQELQGNSIM EPPSWPSPTE DPTGHFLWHA
TRSTRETLLN PTWLRNEDSG PSGSVDLPLT STLTALKTPA CVPVSIGRIM VSNVTSTGFH
LAWEADLAMD STFQLTLTSM WSPAVVLETW NTSVTLSGLE PGVLHLVEIM AKACGKEGAR
AHLKVRTAAR KLIGKVRIKN VRYSESFRNA SSQEYRDFLE LFFRMVRGSL PATMCQHMDA
GGVRMEVVSV TNGSIVVEFH LLIIADVDVQ EVSAAFLTAF QTVPLLEVIR GDTFIQDYDE
CERKEDDCVP GTSCRNTLGS FTCSCEGGAP DFPVEYSERP CEGDSPGNET WATSPERPLT
TAGTKAAFVQ GTSPTPQGLP QRLNLTGAVR VLCEIEKVVV AIQKRFLQQE SIPESSLYLS
HPSCNVSHSN GTHVLLEAGW SECGTLMQSN MTNTVVRTTL RNDLSQEGII HHLKILSPIY
CAFQNDLLTS SGFTLEWGVY TIIEDLHGAG NFVTEMQLFI GDSPIPQNYS VSASDDVRIE
VGLYRQKSNL KVVLTECWAT PSSNARDPIT FSFINNSCPV PNTYTNVIEN GNSNKAQFKL
RIFSFINDSI VYLHCKLRVC MESPGATCKI NCNNFRLLQN SETSATHQMS WGPLIRSEGE
PPHAEAGLGA GYVVLIVVAI FVLVAGTATL LIVRYQRMNG RYNFKIQSNN FSYQVFYE*

mutated AA sequence

N/A

speed

0.69 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

Problems