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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000340738
Querying Taster for transcript #2: ENST00000554301
Querying Taster for transcript #3: ENST00000555445
Querying Taster for transcript #4: ENST00000427855
Querying Taster for transcript #5: ENST00000381166
MT speed 0 s - this script 4.406483 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PAPLN	polymorphism_automatic	1.48600021177003e-11	simple_aae		affected		M666R	single base exchange	rs177389		show file
PAPLN	polymorphism_automatic	1.48600021177003e-11	simple_aae		affected		M693R	single base exchange	rs177389		show file
PAPLN	polymorphism_automatic	1.48600021177003e-11	simple_aae		affected		M693R	single base exchange	rs177389		show file
PAPLN	polymorphism_automatic	1.48600021177003e-11	simple_aae		affected		M693R	single base exchange	rs177389		show file
PAPLN	polymorphism_automatic	1.48600021177003e-11	simple_aae		affected		M693R	single base exchange	rs177389		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999998514 (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)

chr14:73727509T>GN/A show variant in all transcripts IGV

HGNC symbol

PAPLN

Ensembl transcript ID

ENST00000340738

Genbank transcript ID

NM_173462

UniProt peptide

O95428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1997T>G
cDNA.2099T>G
g.23305T>G

AA changes

M666R Score: 91 explain score(s)

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

666

frameshift

known variant

Reference ID: rs177389

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1087	1112	2199
ExAC	18768	-4769	13999

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.758	0.067
	0.695	0.165
(flanking)	1.12	0.167

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	23299	0.44	mu: CACCGGGGGCAGGCC	CCGG\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

666

mutated

not conserved

666

Ptroglodytes

not conserved

ENSPTRG00000006512

624

Mmulatta

not conserved

ENSMMUG00000020195

652

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021223

709

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

T19D2.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
693	693	CONFLICT	M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).	might get lost (downstream of altered splice site)
754	754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
754	804	DOMAIN	BPTI/Kunitz inhibitor.	might get lost (downstream of altered splice site)
763	763	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
787	787	DISULFID	By similarity.	might get lost (downstream of altered splice site)
800	800	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
900	995	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
931	931	DISULFID	By similarity.	might get lost (downstream of altered splice site)
978	978	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1033	1128	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
1065	1065	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1112	1112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1133	1218	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
1154	1154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1162	1162	CONFLICT	N -> D (in Ref. 2; BAG57189).	might get lost (downstream of altered splice site)
1202	1202	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1229	1229	CONFLICT	R -> K (in Ref. 5; CAD97826).	might get lost (downstream of altered splice site)
1231	1270	DOMAIN	PLAC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3756 / 3756

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

1252 / 1252

position of stopcodon in wt / mu cDNA

3858 / 3858

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

103 / 103

chromosome

strand

last intron/exon boundary

3689

theoretical NMD boundary in CDS

3536

length of CDS

3756

coding sequence (CDS) position

1997

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

2099

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

23305

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

73727509

original gDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered gDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

original cDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered cDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

wildtype AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRAVKN VRGEYYLNGH WTIEAARALP AASTILHYER GAEGDLAPER
LHARGPTSEP LVIELISQEP NPGVHYEYHL PLRRPSPGFS WSHGSWSDCS AECGGGHQSR
LVFCTIDHEA YPDHMCQRQP RPADRRSCNL HPCPETKRWK AGPWAPCSAS CGGGSQSRSV
YCISSDGAGI QEAVEEAECA GLPGKPPAIQ ACNLQRCAAW SPEPWGECSV SCGVGVRKRS
VTCRGERGSL LHTAACSLED RPPLTEPCVH EDCPLLSDQA WHVGTWGLCS KSCSSGTRRR
QVICAIGPPS HCGSLQHSKP VDVEPCNTQP CHLPQEVPSM QDVHTPASNP WMPLGPQESP
ASDSRGQWWA AQEHPSARGD HRGERGDPRG DQGTHLSALG PAPSLQQPPY QQPLRSGSGP
HDCRHSPHGC CPDGHTASLG PQWQGCPGAP CQQSRYGCCP DRVSVAEGPH HAGCTKSYGG
DSTGGMPRSR AVASTVHNTH QPQAQQNEPS ECRGSQFGCC YDNVATAAGP LGEGCVGQPS
HAYPVRCLLP SAHGSCADWA ARWYFVASVG QCNRFWYGGC HGNANNFASE QECMSSCQGS
LHGPRRPQPG ASGRSTHTDG GGSSPAGEQE PSQHRTGAAV QRKPWPSGGL WRQDQQPGPG
EAPHTQAFGE WPWGQELGSR APGLGGDAGS PAPPFHSSSY RISLAGVEPS LVQAALGQLV
RLSCSDDTAP ESQAAWQKDG QPISSDRHRL QFDGSLIIHP LQAEDAGTYS CGSTRPGRDS
QKIQLRIIGG DMAVLSEAEL SRFPQPRDPA QDFGQAGAAG PLGAIPSSHP QPANRLRLDQ
NQPRVVDASP GQRIRMTCRA EGFPPPAIEW QRDGQPVSSP RHQLQPDGSL VISRVAVEDG
GFYTCVAFNG QDRDQRWVQL RVLGELTISG LPPTVTVPEG DTARLLCVVA GESVNIRWSR
NGLPVQADGH RVHQSPDGTL LIYNLRARDE GSYTCSAYQG SQAVSRSTEV KVVSPAPTAQ
PRDPGRDCVD QPELANCDLI LQAQLCGNEY YSSFCCASCS RFQPHAQPIW Q*

mutated AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRAVKN VRGEYYLNGH WTIEAARALP AASTILHYER GAEGDLAPER
LHARGPTSEP LVIELISQEP NPGVHYEYHL PLRRPSPGFS WSHGSWSDCS AECGGGHQSR
LVFCTIDHEA YPDHMCQRQP RPADRRSCNL HPCPETKRWK AGPWAPCSAS CGGGSQSRSV
YCISSDGAGI QEAVEEAECA GLPGKPPAIQ ACNLQRCAAW SPEPWGECSV SCGVGVRKRS
VTCRGERGSL LHTAACSLED RPPLTEPCVH EDCPLLSDQA WHVGTWGLCS KSCSSGTRRR
QVICAIGPPS HCGSLQHSKP VDVEPCNTQP CHLPQEVPSM QDVHTPASNP WMPLGPQESP
ASDSRGQWWA AQEHPSARGD HRGERGDPRG DQGTHLSALG PAPSLQQPPY QQPLRSGSGP
HDCRHSPHGC CPDGHTASLG PQWQGCPGAP CQQSRYGCCP DRVSVAEGPH HAGCTKSYGG
DSTGGRPRSR AVASTVHNTH QPQAQQNEPS ECRGSQFGCC YDNVATAAGP LGEGCVGQPS
HAYPVRCLLP SAHGSCADWA ARWYFVASVG QCNRFWYGGC HGNANNFASE QECMSSCQGS
LHGPRRPQPG ASGRSTHTDG GGSSPAGEQE PSQHRTGAAV QRKPWPSGGL WRQDQQPGPG
EAPHTQAFGE WPWGQELGSR APGLGGDAGS PAPPFHSSSY RISLAGVEPS LVQAALGQLV
RLSCSDDTAP ESQAAWQKDG QPISSDRHRL QFDGSLIIHP LQAEDAGTYS CGSTRPGRDS
QKIQLRIIGG DMAVLSEAEL SRFPQPRDPA QDFGQAGAAG PLGAIPSSHP QPANRLRLDQ
NQPRVVDASP GQRIRMTCRA EGFPPPAIEW QRDGQPVSSP RHQLQPDGSL VISRVAVEDG
GFYTCVAFNG QDRDQRWVQL RVLGELTISG LPPTVTVPEG DTARLLCVVA GESVNIRWSR
NGLPVQADGH RVHQSPDGTL LIYNLRARDE GSYTCSAYQG SQAVSRSTEV KVVSPAPTAQ
PRDPGRDCVD QPELANCDLI LQAQLCGNEY YSSFCCASCS RFQPHAQPIW Q*

speed

0.47 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: 0.99999999998514 (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)

chr14:73727509T>GN/A show variant in all transcripts IGV

HGNC symbol

PAPLN

Ensembl transcript ID

ENST00000554301

Genbank transcript ID

N/A

UniProt peptide

O95428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2078T>G
cDNA.2241T>G
g.23305T>G

AA changes

M693R Score: 91 explain score(s)

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

693

frameshift

known variant

Reference ID: rs177389

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1087	1112	2199
ExAC	18768	-4769	13999

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.758	0.067
	0.695	0.165
(flanking)	1.12	0.167

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	23299	0.44	mu: CACCGGGGGCAGGCC	CCGG\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

not conserved

693

Ptroglodytes

not conserved

ENSPTRG00000006512

624

Mmulatta

not conserved

ENSMMUG00000020195

652

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021223

709

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

T19D2.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
693	693	CONFLICT	M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).	lost
754	754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
754	804	DOMAIN	BPTI/Kunitz inhibitor.	might get lost (downstream of altered splice site)
763	763	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
787	787	DISULFID	By similarity.	might get lost (downstream of altered splice site)
800	800	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
900	995	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
931	931	DISULFID	By similarity.	might get lost (downstream of altered splice site)
978	978	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1033	1128	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
1065	1065	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1112	1112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1133	1218	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
1154	1154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1162	1162	CONFLICT	N -> D (in Ref. 2; BAG57189).	might get lost (downstream of altered splice site)
1202	1202	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1229	1229	CONFLICT	R -> K (in Ref. 5; CAD97826).	might get lost (downstream of altered splice site)
1231	1270	DOMAIN	PLAC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3837 / 3837

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

1279 / 1279

position of stopcodon in wt / mu cDNA

4000 / 4000

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

164 / 164

chromosome

strand

last intron/exon boundary

3831

theoretical NMD boundary in CDS

3617

length of CDS

3837

coding sequence (CDS) position

2078

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

2241

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

23305

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

73727509

original gDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered gDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

original cDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered cDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

wildtype AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPRHQ LQPDGSLVIS RVAVEDGGFY TCVAFNGQDR DQRWVQLRVL GELTISGLPP
TVTVPEGDTA RLLCVVAGES VNIRWSRNGL PVQADGHRVH QSPDGTLLIY NLRARDEGSY
TCSAYQGSQA VSRSTEVKVV SPAPTAQPRD PGRDCVDQPE LANCDLILQA QLCGNEYYSS
FCCASCSRFQ PHAQPIWQ*

mutated AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGRPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPRHQ LQPDGSLVIS RVAVEDGGFY TCVAFNGQDR DQRWVQLRVL GELTISGLPP
TVTVPEGDTA RLLCVVAGES VNIRWSRNGL PVQADGHRVH QSPDGTLLIY NLRARDEGSY
TCSAYQGSQA VSRSTEVKVV SPAPTAQPRD PGRDCVDQPE LANCDLILQA QLCGNEYYSS
FCCASCSRFQ PHAQPIWQ*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999998514 (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)

chr14:73727509T>GN/A show variant in all transcripts IGV

HGNC symbol

PAPLN

Ensembl transcript ID

ENST00000555445

Genbank transcript ID

N/A

UniProt peptide

O95428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2078T>G
cDNA.2232T>G
g.23305T>G

AA changes

M693R Score: 91 explain score(s)

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

693

frameshift

known variant

Reference ID: rs177389

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1087	1112	2199
ExAC	18768	-4769	13999

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.758	0.067
	0.695	0.165
(flanking)	1.12	0.167

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	23299	0.44	mu: CACCGGGGGCAGGCC	CCGG\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

not conserved

693

Ptroglodytes

not conserved

ENSPTRG00000006512

624

Mmulatta

not conserved

ENSMMUG00000020195

652

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021223

709

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

T19D2.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
693	693	CONFLICT	M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).	lost
754	754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
754	804	DOMAIN	BPTI/Kunitz inhibitor.	might get lost (downstream of altered splice site)
763	763	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
787	787	DISULFID	By similarity.	might get lost (downstream of altered splice site)
800	800	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
900	995	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
931	931	DISULFID	By similarity.	might get lost (downstream of altered splice site)
978	978	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1033	1128	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
1065	1065	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1112	1112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1133	1218	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
1154	1154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1162	1162	CONFLICT	N -> D (in Ref. 2; BAG57189).	might get lost (downstream of altered splice site)
1202	1202	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1229	1229	CONFLICT	R -> K (in Ref. 5; CAD97826).	might get lost (downstream of altered splice site)
1231	1270	DOMAIN	PLAC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3789 / 3789

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

1263 / 1263

position of stopcodon in wt / mu cDNA

3943 / 3943

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

155 / 155

chromosome

strand

last intron/exon boundary

3774

theoretical NMD boundary in CDS

3569

length of CDS

3789

coding sequence (CDS) position

2078

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

2232

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

23305

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

73727509

original gDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered gDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

original cDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered cDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

wildtype AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHDW AARWYFVASV GQCNRFWYGG CHGNANNFAS
EQECMSSCQG SLHGPRRPQP GASGRSTHTD GGGSSPAGEQ EPSQHRTGAA VQRKPWPSGG
LWRQDQQPGP GEAPHTQAFG EWPWGQELGS RAPGLGGDAG SPAPPFHSSS YRISLAGVEP
SLVQAALGQL VRLSCSDDTA PESQAAWQKD GQPISSDRHR LQFDGSLIIH PLQAEDAGTY
SCGSTRPGRD SQKIQLRIIG GDMAVLSEAE LSRFPQPRDP AQDFGQAGAA GPLGAIPSSH
PQPANRLRLD QNQPRVVDAS PGQRIRMTCR AEGFPPPAIE WQRDGQPVSS PRHQLQPDGS
LVISRVAVED GGFYTCVAFN GQDRDQRWVQ LRVLGELTIS GLPPTVTVPE GDTARLLCVV
AGESVNIRWS RNGLPVQADG HRVHQSPDGT LLIYNLRARD EGSYTCSAYQ GSQAVSRSTE
VKVVSPAPTA QPRDPGRDCV DQPELANCDL ILQAQLCGNE YYSSFCCASC SRFQPHAQPI
WQ*

mutated AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGRPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHDW AARWYFVASV GQCNRFWYGG CHGNANNFAS
EQECMSSCQG SLHGPRRPQP GASGRSTHTD GGGSSPAGEQ EPSQHRTGAA VQRKPWPSGG
LWRQDQQPGP GEAPHTQAFG EWPWGQELGS RAPGLGGDAG SPAPPFHSSS YRISLAGVEP
SLVQAALGQL VRLSCSDDTA PESQAAWQKD GQPISSDRHR LQFDGSLIIH PLQAEDAGTY
SCGSTRPGRD SQKIQLRIIG GDMAVLSEAE LSRFPQPRDP AQDFGQAGAA GPLGAIPSSH
PQPANRLRLD QNQPRVVDAS PGQRIRMTCR AEGFPPPAIE WQRDGQPVSS PRHQLQPDGS
LVISRVAVED GGFYTCVAFN GQDRDQRWVQ LRVLGELTIS GLPPTVTVPE GDTARLLCVV
AGESVNIRWS RNGLPVQADG HRVHQSPDGT LLIYNLRARD EGSYTCSAYQ GSQAVSRSTE
VKVVSPAPTA QPRDPGRDCV DQPELANCDL ILQAQLCGNE YYSSFCCASC SRFQPHAQPI
WQ*

speed

0.47 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999998514 (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)

chr14:73727509T>GN/A show variant in all transcripts IGV

HGNC symbol

PAPLN

Ensembl transcript ID

ENST00000427855

Genbank transcript ID

N/A

UniProt peptide

O95428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2078T>G
cDNA.2180T>G
g.23305T>G

AA changes

M693R Score: 91 explain score(s)

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

693

frameshift

known variant

Reference ID: rs177389

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1087	1112	2199
ExAC	18768	-4769	13999

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.758	0.067
	0.695	0.165
(flanking)	1.12	0.167

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	23299	0.44	mu: CACCGGGGGCAGGCC	CCGG\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

not conserved

693

Ptroglodytes

not conserved

ENSPTRG00000006512

624

Mmulatta

not conserved

ENSMMUG00000020195

652

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021223

709

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

T19D2.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
693	693	CONFLICT	M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).	lost
754	754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
754	804	DOMAIN	BPTI/Kunitz inhibitor.	might get lost (downstream of altered splice site)
763	763	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
787	787	DISULFID	By similarity.	might get lost (downstream of altered splice site)
800	800	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
900	995	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
931	931	DISULFID	By similarity.	might get lost (downstream of altered splice site)
978	978	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1033	1128	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
1065	1065	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1112	1112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1133	1218	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
1154	1154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1162	1162	CONFLICT	N -> D (in Ref. 2; BAG57189).	might get lost (downstream of altered splice site)
1202	1202	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1229	1229	CONFLICT	R -> K (in Ref. 5; CAD97826).	might get lost (downstream of altered splice site)
1231	1270	DOMAIN	PLAC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3837 / 3837

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

1279 / 1279

position of stopcodon in wt / mu cDNA

3939 / 3939

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

103 / 103

chromosome

strand

last intron/exon boundary

3770

theoretical NMD boundary in CDS

3617

length of CDS

3837

coding sequence (CDS) position

2078

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

2180

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

23305

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

73727509

original gDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered gDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

original cDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered cDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

wildtype AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPRHQ LQPDGSLVIS RVAVEDGGFY TCVAFNGQDR DQRWVQLRVL GELTISGLPP
TVTVPEGDTA RLLCVVAGES VNIRWSRNGL PVQADGHRVH QSPDGTLLIY NLRARDEGSY
TCSAYQGSQA VSRSTEVKVV SPAPTAQPRD PGRDCVDQPE LANCDLILQA QLCGNEYYSS
FCCASCSRFQ PHAQPIWQ*

mutated AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGRPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPRHQ LQPDGSLVIS RVAVEDGGFY TCVAFNGQDR DQRWVQLRVL GELTISGLPP
TVTVPEGDTA RLLCVVAGES VNIRWSRNGL PVQADGHRVH QSPDGTLLIY NLRARDEGSY
TCSAYQGSQA VSRSTEVKVV SPAPTAQPRD PGRDCVDQPE LANCDLILQA QLCGNEYYSS
FCCASCSRFQ PHAQPIWQ*

speed

1.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999998514 (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)

chr14:73727509T>GN/A show variant in all transcripts IGV

HGNC symbol

PAPLN

Ensembl transcript ID

ENST00000381166

Genbank transcript ID

N/A

UniProt peptide

O95428

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2078T>G
cDNA.2180T>G
g.23305T>G

AA changes

M693R Score: 91 explain score(s)

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

693

frameshift

known variant

Reference ID: rs177389

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1087	1112	2199
ExAC	18768	-4769	13999

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.758	0.067
	0.695	0.165
(flanking)	1.12	0.167

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	23299	0.44	mu: CACCGGGGGCAGGCC	CCGG\|gggc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

693

mutated

not conserved

693

Ptroglodytes

not conserved

ENSPTRG00000006512

624

Mmulatta

not conserved

ENSMMUG00000020195

652

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000021223

709

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no alignment

T19D2.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
693	693	CONFLICT	M -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).	lost
754	754	DISULFID	By similarity.	might get lost (downstream of altered splice site)
754	804	DOMAIN	BPTI/Kunitz inhibitor.	might get lost (downstream of altered splice site)
763	763	DISULFID	By similarity.	might get lost (downstream of altered splice site)
779	779	DISULFID	By similarity.	might get lost (downstream of altered splice site)
787	787	DISULFID	By similarity.	might get lost (downstream of altered splice site)
800	800	DISULFID	By similarity.	might get lost (downstream of altered splice site)
804	804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
900	995	DOMAIN	Ig-like C2-type 1.	might get lost (downstream of altered splice site)
931	931	DISULFID	By similarity.	might get lost (downstream of altered splice site)
978	978	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1033	1128	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
1065	1065	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1112	1112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1133	1218	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
1154	1154	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1162	1162	CONFLICT	N -> D (in Ref. 2; BAG57189).	might get lost (downstream of altered splice site)
1202	1202	DISULFID	By similarity.	might get lost (downstream of altered splice site)
1229	1229	CONFLICT	R -> K (in Ref. 5; CAD97826).	might get lost (downstream of altered splice site)
1231	1270	DOMAIN	PLAC.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3330 / 3330

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

1110 / 1110

position of stopcodon in wt / mu cDNA

3432 / 3432

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

103 / 103

chromosome

strand

last intron/exon boundary

3366

theoretical NMD boundary in CDS

3213

length of CDS

3330

coding sequence (CDS) position

2078

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

2180

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

23305

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

73727509

original gDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered gDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

original cDNA sequence snippet

TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG

altered cDNA sequence snippet

TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG

wildtype AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPSTH RPAQGPWQGL RRPARAGQL*

mutated AA sequence

MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGRPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPSTH RPAQGPWQGL RRPARAGQL*

speed

0.46 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

Problems