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: ENST00000370992
Querying Taster for transcript #2: ENST00000315563
Querying Taster for transcript #3: ENST00000414986
Querying Taster for transcript #4: ENST00000536831
MT speed 0 s - this script 4.731364 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
RRP12	polymorphism_automatic	0.999971357824534	simple_aae		affected		G1084S	single base exchange	rs2275580		show file
RRP12	polymorphism_automatic	0.999992856600558	simple_aae		affected		G1145S	single base exchange	rs2275580		show file
RRP12	polymorphism_automatic	0.999992856600558	simple_aae		affected		G1045S	single base exchange	rs2275580		show file
RRP12	polymorphism_automatic	0.999992856600558	simple_aae		affected		G863S	single base exchange	rs2275580		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 2.86421754662291e-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)

chr10:99125949C>TN/A show variant in all transcripts IGV

HGNC symbol

RRP12

Ensembl transcript ID

ENST00000414986

Genbank transcript ID

NM_001145114

UniProt peptide

Q5JTH9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3250G>A
cDNA.3389G>A
g.35179G>A

AA changes

G1084S Score: 56 explain score(s)

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

1084

frameshift

known variant

Reference ID: rs2275580

database	homozygous (T/T)	heterozygous	allele carriers
1000G	491	1001	1492
ExAC	18279	-3791	14488

regulatory features

H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.327	1
	3.497	0.998
(flanking)	-1.018	0.531

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	35181	wt: 0.76 / mu: 0.92	wt: CACGGCTTCAAGGTG mu: CACAGCTTCAAGGTG	CGGC\|ttca
Donor gained	35179	0.37	mu: ACCACAGCTTCAAGG	CACA\|gctt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1084

mutated

not conserved

1084

Ptroglodytes

all identical

ENSPTRG00000002806

1145

Mmulatta

all identical

ENSMMUG00000019634

1141

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035049

1144

Ggallus

not conserved

ENSGALG00000007603

1029

Trubripes

all identical

ENSTRUG00000012017

1133

Drerio

all identical

ENSDARG00000022410

1135

Dmelanogaster

all identical

FBgn0030504

1190

KTKAQL

Celegans

all identical

Y46E12BL.2

1159

KKALERRQKV

Xtropicalis

not conserved

ENSXETG00000003430

1145

protein features

start (aa)	end (aa)	feature	details
1054	1090	COMPBIAS	Glu-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3711 / 3711

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

1237 / 1237

position of stopcodon in wt / mu cDNA

3850 / 3850

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

140 / 140

chromosome

strand

-1

last intron/exon boundary

3748

theoretical NMD boundary in CDS

3558

length of CDS

3711

coding sequence (CDS) position

3250

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

3389

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

35179

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

99125949

original gDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered gDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

original cDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered cDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

wildtype AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LVLSCLATLL RKQDLEAWGY PVTLQVYHGL
LSFTVHPKPK IRKAAQHGVC SVLKGSEFMF EKAPAHHPAA ISTAKFCIQE IEKSGGSKEA
TTTLHMLTLL KDLLPCFPEG LVKSCSETLL RVMTLSHVLV TACAMQAFHS LFHARPGLST
LSAELNAQII TALYDYVPSE NDLQPLLAWL KVMEKAHINL VRLQWDLGLG HLPRFFGTAV
TCLLSPHSQV LTAATQSLKE ILKECVAPHM ADIGSVTSSA SGPAQSVAKM FRAVEEGLTY
KFHAAWSSVL QLLCVFFEAC GRQAHPVMRK CLQSLCDLRL SPHFPHTAAL DQAVGAAVTS
MGPEVVLQAV PLEIDGSEET LDFPRSWLLP VIRDHVQETR LGFFTTYFLP LANTLKSKAM
DLAQAGSTVE SKIYDTLQWQ MWTLLPGFCT RPTDVAISFK GLARTLGMAI SERPDLRVTV
CQALRTLITK GCQAEADRAE VSRFAKNFLP ILFNLYGQPV AAGDTPAPRR AVLETIRTYL
TITDTQLVNS LLEKASEKVL DPASSDFTRL SVLDLVVALA PCADEAAISK LYSTIRPYLE
SKAHGVQKKA YRVLEEVCAS PQGPGALFVQ SHLEDLKKTL LDSLRSTSSP AKRPRLKCLL
HIVRKLSAEH KEFITALIPE VILCTKEVSV GARKNAFALL VEMGHAFLRF GSNQEEALQC
YLVLIYPGLV GAVTMVSCSI LALTHLLFEF KGLMGTSTVE QLLENVCLLL ASRTRDVVKS
ALGFIKVAVT VMDVAHLAKH VQLVMEAIGK LSDDMRRHFR MKLRNLFTKF IRKFGFELVK
RLLPEEYHRV LVNIRKAEAR AKRHRALSQA AVEEEEEEEE EEEPAQGKGD SIEEILADSE
DEEDNEEEER SRGKEQRKLA RQRSRAWLKE GGGDEPLNFL DPKVAQRVLA TQPGPGRGRK
KDHGFKVSAD GRLIIREEAD GNKMEEEEGA KGEDEEMADP MEDVIIRNKK HQKLKHQKEA
EEEELEIPPQ YQAGGSGIHR PVAKKAMPGA EYKAKKAKGD VKKKGRPDPY AYIPLNRSKL
NRRKKMKLQG QFKGLVKAAR RGSQVGHKNR RKDRRP*

mutated AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LVLSCLATLL RKQDLEAWGY PVTLQVYHGL
LSFTVHPKPK IRKAAQHGVC SVLKGSEFMF EKAPAHHPAA ISTAKFCIQE IEKSGGSKEA
TTTLHMLTLL KDLLPCFPEG LVKSCSETLL RVMTLSHVLV TACAMQAFHS LFHARPGLST
LSAELNAQII TALYDYVPSE NDLQPLLAWL KVMEKAHINL VRLQWDLGLG HLPRFFGTAV
TCLLSPHSQV LTAATQSLKE ILKECVAPHM ADIGSVTSSA SGPAQSVAKM FRAVEEGLTY
KFHAAWSSVL QLLCVFFEAC GRQAHPVMRK CLQSLCDLRL SPHFPHTAAL DQAVGAAVTS
MGPEVVLQAV PLEIDGSEET LDFPRSWLLP VIRDHVQETR LGFFTTYFLP LANTLKSKAM
DLAQAGSTVE SKIYDTLQWQ MWTLLPGFCT RPTDVAISFK GLARTLGMAI SERPDLRVTV
CQALRTLITK GCQAEADRAE VSRFAKNFLP ILFNLYGQPV AAGDTPAPRR AVLETIRTYL
TITDTQLVNS LLEKASEKVL DPASSDFTRL SVLDLVVALA PCADEAAISK LYSTIRPYLE
SKAHGVQKKA YRVLEEVCAS PQGPGALFVQ SHLEDLKKTL LDSLRSTSSP AKRPRLKCLL
HIVRKLSAEH KEFITALIPE VILCTKEVSV GARKNAFALL VEMGHAFLRF GSNQEEALQC
YLVLIYPGLV GAVTMVSCSI LALTHLLFEF KGLMGTSTVE QLLENVCLLL ASRTRDVVKS
ALGFIKVAVT VMDVAHLAKH VQLVMEAIGK LSDDMRRHFR MKLRNLFTKF IRKFGFELVK
RLLPEEYHRV LVNIRKAEAR AKRHRALSQA AVEEEEEEEE EEEPAQGKGD SIEEILADSE
DEEDNEEEER SRGKEQRKLA RQRSRAWLKE GGGDEPLNFL DPKVAQRVLA TQPGPGRGRK
KDHSFKVSAD GRLIIREEAD GNKMEEEEGA KGEDEEMADP MEDVIIRNKK HQKLKHQKEA
EEEELEIPPQ YQAGGSGIHR PVAKKAMPGA EYKAKKAKGD VKKKGRPDPY AYIPLNRSKL
NRRKKMKLQG QFKGLVKAAR RGSQVGHKNR RKDRRP*

speed

0.98 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: 7.14339944245956e-06 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:99125949C>TN/A show variant in all transcripts IGV

HGNC symbol

RRP12

Ensembl transcript ID

ENST00000370992

Genbank transcript ID

NM_015179

UniProt peptide

Q5JTH9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3433G>A
cDNA.3545G>A
g.35179G>A

AA changes

G1145S Score: 56 explain score(s)

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

1145

frameshift

known variant

Reference ID: rs2275580

database	homozygous (T/T)	heterozygous	allele carriers
1000G	491	1001	1492
ExAC	18279	-3791	14488

regulatory features

H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.327	1
	3.497	0.998
(flanking)	-1.018	0.531

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	35181	wt: 0.76 / mu: 0.92	wt: CACGGCTTCAAGGTG mu: CACAGCTTCAAGGTG	CGGC\|ttca
Donor gained	35179	0.37	mu: ACCACAGCTTCAAGG	CACA\|gctt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1145

mutated

not conserved

1145

Ptroglodytes

all identical

ENSPTRG00000002806

1145

Mmulatta

all identical

ENSMMUG00000019634

1141

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035049

1144

Ggallus

not conserved

ENSGALG00000007603

1029

Trubripes

all identical

ENSTRUG00000012017

1133

Drerio

all identical

ENSDARG00000022410

1135

Dmelanogaster

all identical

FBgn0030504

1195

Celegans

all identical

Y46E12BL.2

1159

KKALERRQKV

Xtropicalis

not conserved

ENSXETG00000003430

1144

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3894 / 3894

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

1298 / 1298

position of stopcodon in wt / mu cDNA

4006 / 4006

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

113 / 113

chromosome

strand

-1

last intron/exon boundary

3904

theoretical NMD boundary in CDS

3741

length of CDS

3894

coding sequence (CDS) position

3433

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

3545

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

35179

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

99125949

original gDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered gDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

original cDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered cDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

wildtype AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LMTTMEAVES PESLAAVAYL LNLVLKRVPS
PVLIKKFSDT SKAFMDIMSA QASSGSTSVL RWVLSCLATL LRKQDLEAWG YPVTLQVYHG
LLSFTVHPKP KIRKAAQHGV CSVLKGSEFM FEKAPAHHPA AISTAKFCIQ EIEKSGGSKE
ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL VTACAMQAFH SLFHARPGLS
TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN LVRLQWDLGL GHLPRFFGTA
VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS ASGPAQSVAK MFRAVEEGLT
YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR LSPHFPHTAA LDQAVGAAVT
SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET RLGFFTTYFL PLANTLKSKA
MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF KGLARTLGMA ISERPDLRVT
VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP VAAGDTPAPR RAVLETIRTY
LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL APCADEAAIS KLYSTIRPYL
ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT LLDSLRSTSS PAKRPRLKCL
LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL LVEMGHAFLR FGSNQEEALQ
CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV EQLLENVCLL LASRTRDVVK
SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF RMKLRNLFTK FIRKFGFELV
KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE EEEEPAQGKG DSIEEILADS
EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF LDPKVAQRVL ATQPGPGRGR
KKDHGFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD PMEDVIIRNK KHQKLKHQKE
AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG DVKKKGRPDP YAYIPLNRSK
LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*

mutated AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LMTTMEAVES PESLAAVAYL LNLVLKRVPS
PVLIKKFSDT SKAFMDIMSA QASSGSTSVL RWVLSCLATL LRKQDLEAWG YPVTLQVYHG
LLSFTVHPKP KIRKAAQHGV CSVLKGSEFM FEKAPAHHPA AISTAKFCIQ EIEKSGGSKE
ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL VTACAMQAFH SLFHARPGLS
TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN LVRLQWDLGL GHLPRFFGTA
VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS ASGPAQSVAK MFRAVEEGLT
YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR LSPHFPHTAA LDQAVGAAVT
SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET RLGFFTTYFL PLANTLKSKA
MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF KGLARTLGMA ISERPDLRVT
VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP VAAGDTPAPR RAVLETIRTY
LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL APCADEAAIS KLYSTIRPYL
ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT LLDSLRSTSS PAKRPRLKCL
LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL LVEMGHAFLR FGSNQEEALQ
CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV EQLLENVCLL LASRTRDVVK
SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF RMKLRNLFTK FIRKFGFELV
KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE EEEEPAQGKG DSIEEILADS
EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF LDPKVAQRVL ATQPGPGRGR
KKDHSFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD PMEDVIIRNK KHQKLKHQKE
AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG DVKKKGRPDP YAYIPLNRSK
LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 7.14339944245956e-06 (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)

chr10:99125949C>TN/A show variant in all transcripts IGV

HGNC symbol

RRP12

Ensembl transcript ID

ENST00000315563

Genbank transcript ID

N/A

UniProt peptide

Q5JTH9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3133G>A
cDNA.3185G>A
g.35179G>A

AA changes

G1045S Score: 56 explain score(s)

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

1045

frameshift

known variant

Reference ID: rs2275580

database	homozygous (T/T)	heterozygous	allele carriers
1000G	491	1001	1492
ExAC	18279	-3791	14488

regulatory features

H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.327	1
	3.497	0.998
(flanking)	-1.018	0.531

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	35181	wt: 0.76 / mu: 0.92	wt: CACGGCTTCAAGGTG mu: CACAGCTTCAAGGTG	CGGC\|ttca
Donor gained	35179	0.37	mu: ACCACAGCTTCAAGG	CACA\|gctt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1045

mutated

not conserved

1045

Ptroglodytes

all identical

ENSPTRG00000002806

1145

Mmulatta

all identical

ENSMMUG00000019634

1141

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035049

1144

Ggallus

not conserved

ENSGALG00000007603

1029

Trubripes

all identical

ENSTRUG00000012017

1133

Drerio

all identical

ENSDARG00000022410

1137

Dmelanogaster

all identical

FBgn0030504

1187

TKAQLP

Celegans

all identical

Y46E12BL.2

1161

KKALERRQKV

VLGDD

Xtropicalis

not conserved

ENSXETG00000003430

1147

protein features

start (aa)	end (aa)	feature	details
1049	1049	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1054	1090	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
1072	1072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1080	1080	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3594 / 3594

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

1198 / 1198

position of stopcodon in wt / mu cDNA

3646 / 3646

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

53 / 53

chromosome

strand

-1

last intron/exon boundary

3544

theoretical NMD boundary in CDS

3441

length of CDS

3594

coding sequence (CDS) position

3133

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

3185

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

35179

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

99125949

original gDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered gDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

original cDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered cDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

wildtype AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LIRKAAQHGV CSVLKGSEFM FEKAPAHHPA
AISTAKFCIQ EIEKSGGSKE ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL
VTACAMQAFH SLFHARPGLS TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN
LVRLQWDLGL GHLPRFFGTA VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS
ASGPAQSVAK MFRAVEEGLT YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR
LSPHFPHTAA LDQAVGAAVT SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET
RLGFFTTYFL PLANTLKSKA MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF
KGLARTLGMA ISERPDLRVT VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP
VAAGDTPAPR RAVLETIRTY LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL
APCADEAAIS KLYSTIRPYL ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT
LLDSLRSTSS PAKRPRLKCL LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL
LVEMGHAFLR FGSNQEEALQ CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV
EQLLENVCLL LASRTRDVVK SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF
RMKLRNLFTK FIRKFGFELV KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE
EEEEPAQGKG DSIEEILADS EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF
LDPKVAQRVL ATQPGPGRGR KKDHGFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD
PMEDVIIRNK KHQKLKHQKE AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG
DVKKKGRPDP YAYIPLNRSK LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*

mutated AA sequence

MGRSGKLPSG VSAKLKRWKK GHSSDSNPAI CRHRQAARSR FFSRPSGRSD LTVDAVKLHN
ELQSGSLRLG KSEAPETPME EEAELVLTEK SSGTFLSGLS DCTNVTFSKV QRFWESNSAA
HKEICAVLAA VTEVIRSQGG KETETEYFAA LIRKAAQHGV CSVLKGSEFM FEKAPAHHPA
AISTAKFCIQ EIEKSGGSKE ATTTLHMLTL LKDLLPCFPE GLVKSCSETL LRVMTLSHVL
VTACAMQAFH SLFHARPGLS TLSAELNAQI ITALYDYVPS ENDLQPLLAW LKVMEKAHIN
LVRLQWDLGL GHLPRFFGTA VTCLLSPHSQ VLTAATQSLK EILKECVAPH MADIGSVTSS
ASGPAQSVAK MFRAVEEGLT YKFHAAWSSV LQLLCVFFEA CGRQAHPVMR KCLQSLCDLR
LSPHFPHTAA LDQAVGAAVT SMGPEVVLQA VPLEIDGSEE TLDFPRSWLL PVIRDHVQET
RLGFFTTYFL PLANTLKSKA MDLAQAGSTV ESKIYDTLQW QMWTLLPGFC TRPTDVAISF
KGLARTLGMA ISERPDLRVT VCQALRTLIT KGCQAEADRA EVSRFAKNFL PILFNLYGQP
VAAGDTPAPR RAVLETIRTY LTITDTQLVN SLLEKASEKV LDPASSDFTR LSVLDLVVAL
APCADEAAIS KLYSTIRPYL ESKAHGVQKK AYRVLEEVCA SPQGPGALFV QSHLEDLKKT
LLDSLRSTSS PAKRPRLKCL LHIVRKLSAE HKEFITALIP EVILCTKEVS VGARKNAFAL
LVEMGHAFLR FGSNQEEALQ CYLVLIYPGL VGAVTMVSCS ILALTHLLFE FKGLMGTSTV
EQLLENVCLL LASRTRDVVK SALGFIKVAV TVMDVAHLAK HVQLVMEAIG KLSDDMRRHF
RMKLRNLFTK FIRKFGFELV KRLLPEEYHR VLVNIRKAEA RAKRHRALSQ AAVEEEEEEE
EEEEPAQGKG DSIEEILADS EDEEDNEEEE RSRGKEQRKL ARQRSRAWLK EGGGDEPLNF
LDPKVAQRVL ATQPGPGRGR KKDHSFKVSA DGRLIIREEA DGNKMEEEEG AKGEDEEMAD
PMEDVIIRNK KHQKLKHQKE AEEEELEIPP QYQAGGSGIH RPVAKKAMPG AEYKAKKAKG
DVKKKGRPDP YAYIPLNRSK LNRRKKMKLQ GQFKGLVKAA RRGSQVGHKN RRKDRRP*

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 7.14339944245956e-06 (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)

chr10:99125949C>TN/A show variant in all transcripts IGV

HGNC symbol

RRP12

Ensembl transcript ID

ENST00000536831

Genbank transcript ID

N/A

UniProt peptide

Q5JTH9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2587G>A
cDNA.2640G>A
g.35179G>A

AA changes

G863S Score: 56 explain score(s)

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

863

frameshift

known variant

Reference ID: rs2275580

database	homozygous (T/T)	heterozygous	allele carriers
1000G	491	1001	1492
ExAC	18279	-3791	14488

regulatory features

H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.327	1
	3.497	0.998
(flanking)	-1.018	0.531

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	35181	wt: 0.76 / mu: 0.92	wt: CACGGCTTCAAGGTG mu: CACAGCTTCAAGGTG	CGGC\|ttca
Donor gained	35179	0.37	mu: ACCACAGCTTCAAGG	CACA\|gctt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

863

mutated

not conserved

863

Ptroglodytes

all identical

ENSPTRG00000002806

1145

Mmulatta

all identical

ENSMMUG00000019634

1141

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035049

1144

Ggallus

not conserved

ENSGALG00000007603

1029

Trubripes

all identical

ENSTRUG00000012017

1133

Drerio

all identical

ENSDARG00000022410

1135

Dmelanogaster

all identical

FBgn0030504

1196

Celegans

all identical

Y46E12BL.2

1161

KKALERRQKV

VLGDD

Xtropicalis

not conserved

ENSXETG00000003430

1145

protein features

start (aa)	end (aa)	feature	details
903	923	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1049	1049	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1054	1090	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
1072	1072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1080	1080	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3048 / 3048

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

1016 / 1016

position of stopcodon in wt / mu cDNA

3101 / 3101

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

54 / 54

chromosome

strand

-1

last intron/exon boundary

2999

theoretical NMD boundary in CDS

2895

length of CDS

3048

coding sequence (CDS) position

2587

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

2640

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

35179

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

99125949

original gDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered gDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

original cDNA sequence snippet

GGGGCAGGAAGAAGGACCACGGCTTCAAGGTGAGCGCCGAT

altered cDNA sequence snippet

GGGGCAGGAAGAAGGACCACAGCTTCAAGGTGAGCGCCGAT

wildtype AA sequence

MDIMSAQASS GSTSVLRWVL SCLATLLRKQ DLEAWGYPVT LQVYHGLLSF TVHPKPKLVT
ACAMQAFHSL FHARPGLSTL SAELNAQIIT ALYDYVPSEN DLQPLLAWLK VMEKAHINLV
RLQWDLGLGH LPRFFGTAVT CLLSPHSQVL TAATQSLKEI LKECVAPHMA DIGSVTSSAS
GPAQSVAKMF RAVEEGLTYK FHAAWSSVLQ LLCVFFEACG RQAHPVMRKC LQSLCDLRLS
PHFPHTAALD QAVGAAVTSM GPEVVLQAVP LEIDGSEETL DFPRSWLLPV IRDHVQETRL
GFFTTYFLPL ANTLKSKAMD LAQAGSTVES KIYDTLQWQM WTLLPGFCTR PTDVAISFKG
LARTLGMAIS ERPDLRVTVC QALRTLITKG CQAEADRAEV SRFAKNFLPI LFNLYGQPVA
AGDTPAPRRA VLETIRTYLT ITDTQLVNSL LEKASEKVLD PASSDFTRLS VLDLVVALAP
CADEAAISKL YSTIRPYLES KAHGVQKKAY RVLEEVCASP QGPGALFVQS HLEDLKKTLL
DSLRSTSSPA KRPRLKCLLH IVRKLSAEHK EFITALIPEV ILCTKEVSVG ARKNAFALLV
EMGHAFLRFG SNQEEALQCY LVLIYPGLVG AVTMVSCSIL ALTHLLFEFK GLMGTSTVEQ
LLENVCLLLA SRTRDVVKSA LGFIKVAVTV MDVAHLAKHV QLVMEAIGKL SDDMRRHFRM
KLRNLFTKFI RKFGFELVKR LLPEEYHRVL VNIRKAEARA KRHRALSQAA VEEEEEEEEE
EEPAQGKGDS IEEILADSED EEDNEEEERS RGKEQRKLAR QRSRAWLKEG GGDEPLNFLD
PKVAQRVLAT QPGPGRGRKK DHGFKVSADG RLIIREEADG NKMEEEEGAK GEDEEMADPM
EDVIIRNKKH QKLKHQKEAE EEELEIPPQY QAGGSGIHRP VAKKAMPGAE YKAKKAKGDV
KKKGRPDPYA YIPLNRSKLN RRKKMKLQGQ FKGLVKAARR GSQVGHKNRR KDRRP*

mutated AA sequence

MDIMSAQASS GSTSVLRWVL SCLATLLRKQ DLEAWGYPVT LQVYHGLLSF TVHPKPKLVT
ACAMQAFHSL FHARPGLSTL SAELNAQIIT ALYDYVPSEN DLQPLLAWLK VMEKAHINLV
RLQWDLGLGH LPRFFGTAVT CLLSPHSQVL TAATQSLKEI LKECVAPHMA DIGSVTSSAS
GPAQSVAKMF RAVEEGLTYK FHAAWSSVLQ LLCVFFEACG RQAHPVMRKC LQSLCDLRLS
PHFPHTAALD QAVGAAVTSM GPEVVLQAVP LEIDGSEETL DFPRSWLLPV IRDHVQETRL
GFFTTYFLPL ANTLKSKAMD LAQAGSTVES KIYDTLQWQM WTLLPGFCTR PTDVAISFKG
LARTLGMAIS ERPDLRVTVC QALRTLITKG CQAEADRAEV SRFAKNFLPI LFNLYGQPVA
AGDTPAPRRA VLETIRTYLT ITDTQLVNSL LEKASEKVLD PASSDFTRLS VLDLVVALAP
CADEAAISKL YSTIRPYLES KAHGVQKKAY RVLEEVCASP QGPGALFVQS HLEDLKKTLL
DSLRSTSSPA KRPRLKCLLH IVRKLSAEHK EFITALIPEV ILCTKEVSVG ARKNAFALLV
EMGHAFLRFG SNQEEALQCY LVLIYPGLVG AVTMVSCSIL ALTHLLFEFK GLMGTSTVEQ
LLENVCLLLA SRTRDVVKSA LGFIKVAVTV MDVAHLAKHV QLVMEAIGKL SDDMRRHFRM
KLRNLFTKFI RKFGFELVKR LLPEEYHRVL VNIRKAEARA KRHRALSQAA VEEEEEEEEE
EEPAQGKGDS IEEILADSED EEDNEEEERS RGKEQRKLAR QRSRAWLKEG GGDEPLNFLD
PKVAQRVLAT QPGPGRGRKK DHSFKVSADG RLIIREEADG NKMEEEEGAK GEDEEMADPM
EDVIIRNKKH QKLKHQKEAE EEELEIPPQY QAGGSGIHRP VAKKAMPGAE YKAKKAKGDV
KKKGRPDPYA YIPLNRSKLN RRKKMKLQGQ FKGLVKAARR GSQVGHKNRR KDRRP*

speed

0.75 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