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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000474524
Querying Taster for transcript #2: ENST00000273432
Querying Taster for transcript #3: ENST00000302632
MT speed 3.18 s - this script 5.25097 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MED12L	polymorphism_automatic	0.00041530404467105	simple_aae				R1210Q	single base exchange	rs3732765		show file
MED12L	polymorphism_automatic	0.00041530404467105	simple_aae				R1070Q	single base exchange	rs3732765		show file
P2RY12	polymorphism_automatic	0.999551662556529	without_aae					single base exchange	rs3732765		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999584695955329 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:151090424G>AN/A show variant in all transcripts IGV

HGNC symbol

MED12L

Ensembl transcript ID

ENST00000474524

Genbank transcript ID

NM_053002

UniProt peptide

Q86YW9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3629G>A
cDNA.3667G>A
g.286941G>A

AA changes

R1210Q Score: 43 explain score(s)

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

1210

frameshift

known variant

Reference ID: rs3732765

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	6295	20177	26472

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.474	0.42
	1.971	0.409
(flanking)	-1.82	0.058

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	286943	wt: 0.8962 / mu: 0.9810 (marginal change - not scored)	wt: TGCGATGTGATGGGA mu: TGCAATGTGATGGGA	CGAT\|gtga
Donor marginally increased	286938	wt: 0.9167 / mu: 0.9281 (marginal change - not scored)	wt: AGGTTTGCGATGTGA mu: AGGTTTGCAATGTGA	GTTT\|gcga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1210

mutated

all conserved

1210

Ptroglodytes

all identical

ENSPTRG00000015534

1210

Mmulatta

all identical

ENSMMUG00000017239

1209

Fcatus

all identical

ENSFCAG00000010395

1177

Mmusculus

all identical

ENSMUSG00000056476

1245

Ggallus

not conserved

ENSGALG00000010370

1178

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0001324

1349

TPVH

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6438 / 6438

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

2146 / 2146

position of stopcodon in wt / mu cDNA

6476 / 6476

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

39 / 39

chromosome

strand

last intron/exon boundary

6424

theoretical NMD boundary in CDS

6335

length of CDS

6438

coding sequence (CDS) position

3629

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

3667

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

286941

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

151090424

original gDNA sequence snippet

CTTCACCATGAGAGGTTTGCGATGTGATGGGAATGCTGATG

altered gDNA sequence snippet

CTTCACCATGAGAGGTTTGCAATGTGATGGGAATGCTGATG

original cDNA sequence snippet

CTTCACCATGAGAGGTTTGCGATGTGATGGGAATGCTGATG

altered cDNA sequence snippet

CTTCACCATGAGAGGTTTGCAATGTGATGGGAATGCTGATG

wildtype AA sequence

MAAFGLLSYE QRPLKRPRLG PPDVYPQDPK QKEDELTAVN VKQGFNNQPA FTGDEHGSAR
NIVINPSKIG AYFSSILAEK LKLNTFQDTG KKKPQVNAKD NYWLVTARSQ SAIHSWFSDL
AGNKPLSILA KKVPILSKKE DVFAYLAKYS VPMVRATWLI KMTCAYYSAI SEAKIKKRQA
PDPNLEWTQI STRYLREQLA KISDFYHMAS STGDGPVPVP PEVEQAMKQW EYNEKLAFHM
FQEGMLEKHE YLTWILDVLE KIRPMDDDLL KLLLPLMLQY SDEFVQSAYL SRRLAYFCAR
RLSLLLSDSP NLLAAHSPHM MIGPNNSSIG APSPGPPGPG MSPVQLAFSD FLSCAQHGPL
VYGLSCMLQT VTLCCPSALV WNYSTNENKS ANPGSPLDLL QVAPSSLPMP GGNTAFNQQV
RARIYEVEQQ IKQRGRAVEV RWSFDKCQES TAGVTISRVL HTLEVLDRHC FDRTDSSNSM
ETLYHKIFWA NQNKDNQEVA PNDEAVVTLL CEWAVSCKRS GKHRAMAVAK LLEKRQAEIE
AERCGESEVL DEKESISSSS LAGSSLPVFQ NVLLRFLDTQ APSLSDPNSE CEKVEFVNLV
LLFCEFIRHD VFSHDAYMCT LISRGDLSVT ASTRPRSPVG ENADEHYSKD HDVKMEIFSP
MPGESCENAN TSLGRRMSVN CEKLVKREKP RELIFPSNYD LLRHLQYATH FPIPLDESSS
HECNQRTILL YGVGKERDEA RHQLKKITKD ILKILNKKST TETGVGDEGQ KARKNKQETF
PTLETVFTKL QLLSYFDQHQ VTSQISNNVL EQITSFASGT SYHLPLAHHI QLIFDLMEPA
LNINGLIDFA IQLLNELSVV EAELLLKSSS LAGSYTTGLC VCIVAVLRRY HSCLILNPDQ
TAQVFEGLCG VVKHVVNPSE CSSPERCILA YLYDLYVSCS HLRSKFGDLF SSACSKVKQT
IYNNVMPANS NLRWDPDFMM DFIENPSARS INYSMLGKIL SDNAANRYSF VCNTLMNVCM
GHQDAGRIND IANFSSELTA CCTVLSSEWL GVLKALCCSS NHVWGFNDVL CTVDVSDLSF
HDSLATFIAI LIARQCFSLE DVVQHVALPS LLAAACGDAD AEPGARMTCR LLLHLFRAPQ
ACFLPQATGK PFPGIRSSCD RHLLAAAHNS IEVGAVFAVL KAIMMLGDAK IGNNSVSSLK
NDDFTMRGLR CDGNADDIWT ASQNPKSCGK SISIETANLR EYARYVLRTI CQQEWVGEHC
LKEPERLCTD KELILDPVLS NMQAQKLLQL ICYPHGIKEC TEGDNLQRQH IKRILQNLEQ
WTLRQSWLEL QLMIKQCLKD PGSGSVAEMN NLLDNIAKAT IEVFQQSADL NNSSNSGMSL
FNPNSIGSAD TSSTRQNGIK TFLSSSERRG VWLVAPLIAR LPTSVQGRVL KAAGEELEKG
QHLGSSSKKE RDRQKQKSMS LLSQQPFLSL VLTCLKGQDE QREGLLTSLQ NQVNQILSNW
REERYQDDIK ARQMMHEALQ LRLNLVGGMF DTVQRSTQWT TDWALLLLQI ITSGTVDMHT
NNELFTTVLD MLGVLINGTL ASDLSNASPG GSEENKRAYM NLVKKLKKEL GDKRSESIDK
VRQLLPLPKQ TCDVITCEPM GSLIDTKGNK IAGFDSIDKK QGLQVSTKQK VSPWDLFEGQ
KNPAPLSWAW FGTVRVDRRV IKYEEQHHLL LYHTHPMPKP RSYYLQPLPL PPEEEEEEPT
SPVSQEPERK SAELSDQGKT TTDEEKKTKG RKRKTKSSSR VDEYPQSNIY RVPPNYSPIS
SQMMHHPQST LWGYNLVGQP QQPGFFLQNQ SLTPGGSRLD PAGSFVPTNT KQALSNMLQR
RSGAMMQPPS LHAITSQQQL IQMKLLQQQQ QQRLLRQAQT RPFQQGQPGD QAALFAAQAR
PSPQLPQYPG LQQAQTMPQG YTMYGTQMPL QQTSQQQAGS VVLSPSYNSR AYPAAHSNPV
LMERLRQIQQ QPSGYVQQQA SPYLQPLTGS QRLNHQALQQ SPLVGGGIDA VLTSAHPNLP
SVPLPQDPMR PRQPQVRQQQ RLLQMQQPQQ PQPQQPPQPQ QSSQSQSQTL GLQAMQPQQP
LFPRQGLQQT QQQQQTAALV RQLQKQLSSN QPQQGVTPYG HPSHF*

mutated AA sequence

MAAFGLLSYE QRPLKRPRLG PPDVYPQDPK QKEDELTAVN VKQGFNNQPA FTGDEHGSAR
NIVINPSKIG AYFSSILAEK LKLNTFQDTG KKKPQVNAKD NYWLVTARSQ SAIHSWFSDL
AGNKPLSILA KKVPILSKKE DVFAYLAKYS VPMVRATWLI KMTCAYYSAI SEAKIKKRQA
PDPNLEWTQI STRYLREQLA KISDFYHMAS STGDGPVPVP PEVEQAMKQW EYNEKLAFHM
FQEGMLEKHE YLTWILDVLE KIRPMDDDLL KLLLPLMLQY SDEFVQSAYL SRRLAYFCAR
RLSLLLSDSP NLLAAHSPHM MIGPNNSSIG APSPGPPGPG MSPVQLAFSD FLSCAQHGPL
VYGLSCMLQT VTLCCPSALV WNYSTNENKS ANPGSPLDLL QVAPSSLPMP GGNTAFNQQV
RARIYEVEQQ IKQRGRAVEV RWSFDKCQES TAGVTISRVL HTLEVLDRHC FDRTDSSNSM
ETLYHKIFWA NQNKDNQEVA PNDEAVVTLL CEWAVSCKRS GKHRAMAVAK LLEKRQAEIE
AERCGESEVL DEKESISSSS LAGSSLPVFQ NVLLRFLDTQ APSLSDPNSE CEKVEFVNLV
LLFCEFIRHD VFSHDAYMCT LISRGDLSVT ASTRPRSPVG ENADEHYSKD HDVKMEIFSP
MPGESCENAN TSLGRRMSVN CEKLVKREKP RELIFPSNYD LLRHLQYATH FPIPLDESSS
HECNQRTILL YGVGKERDEA RHQLKKITKD ILKILNKKST TETGVGDEGQ KARKNKQETF
PTLETVFTKL QLLSYFDQHQ VTSQISNNVL EQITSFASGT SYHLPLAHHI QLIFDLMEPA
LNINGLIDFA IQLLNELSVV EAELLLKSSS LAGSYTTGLC VCIVAVLRRY HSCLILNPDQ
TAQVFEGLCG VVKHVVNPSE CSSPERCILA YLYDLYVSCS HLRSKFGDLF SSACSKVKQT
IYNNVMPANS NLRWDPDFMM DFIENPSARS INYSMLGKIL SDNAANRYSF VCNTLMNVCM
GHQDAGRIND IANFSSELTA CCTVLSSEWL GVLKALCCSS NHVWGFNDVL CTVDVSDLSF
HDSLATFIAI LIARQCFSLE DVVQHVALPS LLAAACGDAD AEPGARMTCR LLLHLFRAPQ
ACFLPQATGK PFPGIRSSCD RHLLAAAHNS IEVGAVFAVL KAIMMLGDAK IGNNSVSSLK
NDDFTMRGLQ CDGNADDIWT ASQNPKSCGK SISIETANLR EYARYVLRTI CQQEWVGEHC
LKEPERLCTD KELILDPVLS NMQAQKLLQL ICYPHGIKEC TEGDNLQRQH IKRILQNLEQ
WTLRQSWLEL QLMIKQCLKD PGSGSVAEMN NLLDNIAKAT IEVFQQSADL NNSSNSGMSL
FNPNSIGSAD TSSTRQNGIK TFLSSSERRG VWLVAPLIAR LPTSVQGRVL KAAGEELEKG
QHLGSSSKKE RDRQKQKSMS LLSQQPFLSL VLTCLKGQDE QREGLLTSLQ NQVNQILSNW
REERYQDDIK ARQMMHEALQ LRLNLVGGMF DTVQRSTQWT TDWALLLLQI ITSGTVDMHT
NNELFTTVLD MLGVLINGTL ASDLSNASPG GSEENKRAYM NLVKKLKKEL GDKRSESIDK
VRQLLPLPKQ TCDVITCEPM GSLIDTKGNK IAGFDSIDKK QGLQVSTKQK VSPWDLFEGQ
KNPAPLSWAW FGTVRVDRRV IKYEEQHHLL LYHTHPMPKP RSYYLQPLPL PPEEEEEEPT
SPVSQEPERK SAELSDQGKT TTDEEKKTKG RKRKTKSSSR VDEYPQSNIY RVPPNYSPIS
SQMMHHPQST LWGYNLVGQP QQPGFFLQNQ SLTPGGSRLD PAGSFVPTNT KQALSNMLQR
RSGAMMQPPS LHAITSQQQL IQMKLLQQQQ QQRLLRQAQT RPFQQGQPGD QAALFAAQAR
PSPQLPQYPG LQQAQTMPQG YTMYGTQMPL QQTSQQQAGS VVLSPSYNSR AYPAAHSNPV
LMERLRQIQQ QPSGYVQQQA SPYLQPLTGS QRLNHQALQQ SPLVGGGIDA VLTSAHPNLP
SVPLPQDPMR PRQPQVRQQQ RLLQMQQPQQ PQPQQPPQPQ QSSQSQSQTL GLQAMQPQQP
LFPRQGLQQT QQQQQTAALV RQLQKQLSSN QPQQGVTPYG HPSHF*

speed

1.19 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: 0.999584695955329 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:151090424G>AN/A show variant in all transcripts IGV

HGNC symbol

MED12L

Ensembl transcript ID

ENST00000273432

Genbank transcript ID

N/A

UniProt peptide

Q86YW9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3209G>A
cDNA.3242G>A
g.286941G>A

AA changes

R1070Q Score: 43 explain score(s)

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

1070

frameshift

known variant

Reference ID: rs3732765

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	6295	20177	26472

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.474	0.42
	1.971	0.409
(flanking)	-1.82	0.058

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	286943	wt: 0.8962 / mu: 0.9810 (marginal change - not scored)	wt: TGCGATGTGATGGGA mu: TGCAATGTGATGGGA	CGAT\|gtga
Donor marginally increased	286938	wt: 0.9167 / mu: 0.9281 (marginal change - not scored)	wt: AGGTTTGCGATGTGA mu: AGGTTTGCAATGTGA	GTTT\|gcga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1070

mutated

all conserved

1070

Ptroglodytes

all identical

ENSPTRG00000015534

1210

Mmulatta

all identical

ENSMMUG00000017239

1209

Fcatus

all identical

ENSFCAG00000010395

1177

Mmusculus

all identical

ENSMUSG00000056476

1245

Ggallus

not conserved

ENSGALG00000010370

1178

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0001324

1349

TPVH

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5430 / 5430

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

1810 / 1810

position of stopcodon in wt / mu cDNA

5463 / 5463

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

34 / 34

chromosome

strand

last intron/exon boundary

5411

theoretical NMD boundary in CDS

5327

length of CDS

5430

coding sequence (CDS) position

3209

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

3242

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

286941

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

151090424

original gDNA sequence snippet

CTTCACCATGAGAGGTTTGCGATGTGATGGGAATGCTGATG

altered gDNA sequence snippet

CTTCACCATGAGAGGTTTGCAATGTGATGGGAATGCTGATG

original cDNA sequence snippet

CTTCACCATGAGAGGTTTGCGATGTGATGGGAATGCTGATG

altered cDNA sequence snippet

CTTCACCATGAGAGGTTTGCAATGTGATGGGAATGCTGATG

wildtype AA sequence

MAAFGLLSYE QRPLKRPRLG PPDVYPQDPK QKEDELTAVN VKQGFNNQPA FTGDEHGSAR
NIVINPSKIG AYFSSILAEK LKLNTFQDTG KKKPQVNAKD NYWLVTARSQ SAIHSWFSDL
AGNKPLSILA KKVPILSKKE DVFAYLAKYS VPMVRATWLI KMTCAYYSAI SEAKIKKRQA
PDPNLEWTQI STRYLREQLA KISDFYHMAS STGDGPVPVP PEVEQAMKQW EYNEKLAFHM
FQEGMLEKHE YLTWILDVLE KIRPMDDDLL KLLLPLMLQV RARIYEVEQQ IKQRGRAVEV
RWSFDKCQES TAGVTISRVL HTLEVLDRHC FDRTDSSNSM ETLYHKIFWA NQNKDNQEVA
PNDEAVVTLL CEWAVSCKRS GKHRAMAVAK LLEKRQAEIE AERCGESEVL DEKESISSSS
LAGSSLPVFQ NVLLRFLDTQ APSLSDPNSE CEKVEFVNLV LLFCEFIRHD VFSHDAYMCT
LISRGDLSVT ASTRPRSPVG ENADEHYSKD HDVKMEIFSP MPGESCENAN TSLGRRMSVN
CEKLVKREKP RELIFPSNYD LLRHLQYATH FPIPLDESSS HECNQRTILL YGVGKERDEA
RHQLKKITKD ILKILNKKST TETGVGDEGQ KARKNKQETF PTLETVFTKL QLLSYFDQHQ
VTSQISNNVL EQITSFASGT SYHLPLAHHI QLIFDLMEPA LNINGLIDFA IQLLNELSVV
EAELLLKSSS LAGSYTTGLC VCIVAVLRRY HSCLILNPDQ TAQVFEGLCG VVKHVVNPSE
CSSPERCILA YLYDLYVSCS HLRSKFGDLF SSACSKVKQT IYNNVMPANS NLRWDPDFMM
DFIENPSARS INYSMLGKIL SDNAANRYSF VCNTLMNVCM GHQDAGRIND IANFSSELTA
CCTVLSSEWL GVLKALCCSS NHVWGFNDVL CTVDVSDLSF HDSLATFIAI LIARQCFSLE
DVVQHVALPS LLAAACGDAD AEPGARMTCR LLLHLFRAPQ ACFLPQATGK PFPGIRSSCD
RHLLAAAHNS IEVGAVFAVL KAIMMLGDAK IGNNSVSSLK NDDFTMRGLR CDGNADDIWT
ASQNPKSCGK SISIETANLR EYARYVLRTI CQQEWVGEHC LKEPERLCTD KELILDPVLS
NMQAQKLLQL ICYPHGIKEC TEGDNLQRQH IKRILQNLEQ WTLRQSWLEL QLMIKQCLKD
PGSGSVAEMN NLLDNIAKAT IEVFQQSADL NNSSNSGMSL FNPNSIGSAD TSSTRQNGIK
TFLSSSERRG VWLVAPLIAR LPTSVQGRVL KAAGEELEKG QHLGSSSKKE RDRQKQKSMS
LLSQQPFLSL VLTCLKGQDE QREGLLTSLQ NQVNQILSNW REERYQDDIK ARQMMHEALQ
LRLNLVGGMF DTVQRSTQWT TDWALLLLQI ITSGTVDMHT NNELFTTVLD MLGVLINGTL
ASDLSNASPG GSEENKRAYM NLVKKLKKEL GDKRSESIDK VRQLLPLPKQ TCDVITCEPM
GSLIDTKGNK IAGFDSIDKK QGLQVSTKQK VSPWDLFEGQ KNPAPLSWAW FGTVRVDRRV
IKYEEQHHLL LYHTHPMPKP RSYYLQPLPL PPEEEEEEPT SPVSQEPERK SAELSDQGKT
TTDEEKKTKG RKRKTKSSSR VDEYPQSNIY RVPPNYSPIS SQMMHHPQST LWGYNLVGQP
QQPGFFLQNQ SLTPGGSRLD PAGSFVPTNT KQALSNMLQR RSGAMMQPPS LHAITSQQQL
IQMKLLQQQQ QQRLLRQAQT RPFQQFPRQG LQQTQQQQQT AALVRQLQKQ LSSNQPQQGV
TPYGHPSHF*

mutated AA sequence

MAAFGLLSYE QRPLKRPRLG PPDVYPQDPK QKEDELTAVN VKQGFNNQPA FTGDEHGSAR
NIVINPSKIG AYFSSILAEK LKLNTFQDTG KKKPQVNAKD NYWLVTARSQ SAIHSWFSDL
AGNKPLSILA KKVPILSKKE DVFAYLAKYS VPMVRATWLI KMTCAYYSAI SEAKIKKRQA
PDPNLEWTQI STRYLREQLA KISDFYHMAS STGDGPVPVP PEVEQAMKQW EYNEKLAFHM
FQEGMLEKHE YLTWILDVLE KIRPMDDDLL KLLLPLMLQV RARIYEVEQQ IKQRGRAVEV
RWSFDKCQES TAGVTISRVL HTLEVLDRHC FDRTDSSNSM ETLYHKIFWA NQNKDNQEVA
PNDEAVVTLL CEWAVSCKRS GKHRAMAVAK LLEKRQAEIE AERCGESEVL DEKESISSSS
LAGSSLPVFQ NVLLRFLDTQ APSLSDPNSE CEKVEFVNLV LLFCEFIRHD VFSHDAYMCT
LISRGDLSVT ASTRPRSPVG ENADEHYSKD HDVKMEIFSP MPGESCENAN TSLGRRMSVN
CEKLVKREKP RELIFPSNYD LLRHLQYATH FPIPLDESSS HECNQRTILL YGVGKERDEA
RHQLKKITKD ILKILNKKST TETGVGDEGQ KARKNKQETF PTLETVFTKL QLLSYFDQHQ
VTSQISNNVL EQITSFASGT SYHLPLAHHI QLIFDLMEPA LNINGLIDFA IQLLNELSVV
EAELLLKSSS LAGSYTTGLC VCIVAVLRRY HSCLILNPDQ TAQVFEGLCG VVKHVVNPSE
CSSPERCILA YLYDLYVSCS HLRSKFGDLF SSACSKVKQT IYNNVMPANS NLRWDPDFMM
DFIENPSARS INYSMLGKIL SDNAANRYSF VCNTLMNVCM GHQDAGRIND IANFSSELTA
CCTVLSSEWL GVLKALCCSS NHVWGFNDVL CTVDVSDLSF HDSLATFIAI LIARQCFSLE
DVVQHVALPS LLAAACGDAD AEPGARMTCR LLLHLFRAPQ ACFLPQATGK PFPGIRSSCD
RHLLAAAHNS IEVGAVFAVL KAIMMLGDAK IGNNSVSSLK NDDFTMRGLQ CDGNADDIWT
ASQNPKSCGK SISIETANLR EYARYVLRTI CQQEWVGEHC LKEPERLCTD KELILDPVLS
NMQAQKLLQL ICYPHGIKEC TEGDNLQRQH IKRILQNLEQ WTLRQSWLEL QLMIKQCLKD
PGSGSVAEMN NLLDNIAKAT IEVFQQSADL NNSSNSGMSL FNPNSIGSAD TSSTRQNGIK
TFLSSSERRG VWLVAPLIAR LPTSVQGRVL KAAGEELEKG QHLGSSSKKE RDRQKQKSMS
LLSQQPFLSL VLTCLKGQDE QREGLLTSLQ NQVNQILSNW REERYQDDIK ARQMMHEALQ
LRLNLVGGMF DTVQRSTQWT TDWALLLLQI ITSGTVDMHT NNELFTTVLD MLGVLINGTL
ASDLSNASPG GSEENKRAYM NLVKKLKKEL GDKRSESIDK VRQLLPLPKQ TCDVITCEPM
GSLIDTKGNK IAGFDSIDKK QGLQVSTKQK VSPWDLFEGQ KNPAPLSWAW FGTVRVDRRV
IKYEEQHHLL LYHTHPMPKP RSYYLQPLPL PPEEEEEEPT SPVSQEPERK SAELSDQGKT
TTDEEKKTKG RKRKTKSSSR VDEYPQSNIY RVPPNYSPIS SQMMHHPQST LWGYNLVGQP
QQPGFFLQNQ SLTPGGSRLD PAGSFVPTNT KQALSNMLQR RSGAMMQPPS LHAITSQQQL
IQMKLLQQQQ QQRLLRQAQT RPFQQFPRQG LQQTQQQQQT AALVRQLQKQ LSSNQPQQGV
TPYGHPSHF*

speed

1.08 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.000448337443471005 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:151090424G>AN/A show variant in all transcripts IGV

HGNC symbol

P2RY12

Ensembl transcript ID

ENST00000302632

Genbank transcript ID

NM_022788

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.12177C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3732765

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	6295	20177	26472

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.474	0.42
	1.971	0.409
(flanking)	-1.82	0.058

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
Acc marginally increased	12181	wt: 0.6127 / mu: 0.6172 (marginal change - not scored)	wt: AGCATTCCCATCACATCGCAAACCTCTCATGGTGAAGTCAT mu: AGCATTCCCATCACATTGCAAACCTCTCATGGTGAAGTCAT	gcaa\|ACCT

distance from splice site

12056

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

301 / 301

chromosome

strand

-1

last intron/exon boundary

287

theoretical NMD boundary in CDS

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

length of CDS

1029

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)

12177

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

151090424

original gDNA sequence snippet

CATCAGCATTCCCATCACATCGCAAACCTCTCATGGTGAAG

altered gDNA sequence snippet

CATCAGCATTCCCATCACATTGCAAACCTCTCATGGTGAAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MQAVDNLTSA PGNTSLCTRD YKITQVLFPL LYTVLFFVGL ITNGLAMRIF FQIRSKSNFI
IFLKNTVISD LLMILTFPFK ILSDAKLGTG PLRTFVCQVT SVIFYFTMYI SISFLGLITI
DRYQKTTRPF KTSNPKNLLG AKILSVVIWA FMFLLSLPNM ILTNRQPRDK NVKKCSFLKS
EFGLVWHEIV NYICQVIFWI NFLIVIVCYT LITKELYRSY VRTRGVGKVP RKKVNVKVFI
IIAVFFICFV PFHFARIPYT LSQTRDVFDC TAENTLFYVK ESTLWLTSLN ACLDPFIYFF
LCKSFRNSLI SMLKCPNSAT SLSQDNRKKE QDGGDPNEET PM*

mutated AA sequence

N/A

speed

0.91 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems