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: ENST00000409663
Querying Taster for transcript #2: ENST00000409959
Querying Taster for transcript #3: ENST00000440693
MT speed 0 s - this script 4.7228 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TMEM131L	polymorphism_automatic	0.00544504470012197	simple_aae		affected		M562T	single base exchange	rs17370297		show file
TMEM131L	polymorphism_automatic	0.0394148575122349	simple_aae		affected		M645T	single base exchange	rs17370297		show file
TMEM131L	polymorphism_automatic	0.0394148575122349	simple_aae		affected		M646T	single base exchange	rs17370297		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.994554955299878 (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)

chr4:154514965T>CN/A show variant in all transcripts IGV

HGNC symbol

TMEM131L

Ensembl transcript ID

ENST00000440693

Genbank transcript ID

N/A

UniProt peptide

A2VDJ0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1685T>C
cDNA.1737T>C
g.127468T>C

AA changes

M562T Score: 81 explain score(s)

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

562

frameshift

known variant

Reference ID: rs17370297

database	homozygous (C/C)	heterozygous	allele carriers
1000G	130	873	1003
ExAC	5234	22299	27533

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.577	0.988
	0.802	0.988
(flanking)	0.09	0.987

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	127468	wt: 0.2177 / mu: 0.2222 (marginal change - not scored)	wt: TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA mu: TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA	atat\|GCAG
Donor marginally increased	127471	wt: 0.6745 / mu: 0.6849 (marginal change - not scored)	wt: TATGCAGATGATTAA mu: TACGCAGATGATTAA	TGCA\|gatg
Donor marginally increased	127463	wt: 0.9302 / mu: 0.9782 (marginal change - not scored)	wt: GGCACTGATATGCAG mu: GGCACTGATACGCAG	CACT\|gata
Donor increased	127468	wt: 0.23 / mu: 0.60	wt: TGATATGCAGATGAT mu: TGATACGCAGATGAT	ATAT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

562

mutated

not conserved

562

Ptroglodytes

all identical

ENSPTRG00000016527

590

Mmulatta

all identical

ENSMMUG00000009001

498

Fcatus

no alignment

ENSFCAG00000003011

n/a

Mmusculus

all identical

ENSMUSG00000033767

655

Ggallus

all conserved

ENSGALG00000009230

655

Trubripes

no alignment

ENSTRUG00000008066

n/a

Drerio

not conserved

ENSDARG00000079434

656

Dmelanogaster

no alignment

FBgn0034060

n/a

Celegans

no alignment

C27F2.8

n/a

Xtropicalis

not conserved

ENSXETG00000001833

560

protein features

start (aa)	end (aa)	feature	details
41	869	TOPO_DOM	Extracellular (Potential).	lost
593	593	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
709	709	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
846	846	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
870	890	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
891	1609	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
910	913	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1122	1122	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1302	1331	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4581 / 4581

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

1527 / 1527

position of stopcodon in wt / mu cDNA

4633 / 4633

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

last intron/exon boundary

4358

theoretical NMD boundary in CDS

4255

length of CDS

4581

coding sequence (CDS) position

1685

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

1737

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

127468

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

154514965

original gDNA sequence snippet

TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered gDNA sequence snippet

TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA

original cDNA sequence snippet

CTGCAAGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered cDNA sequence snippet

CTGCAAGTTTGGCACTGATACGCAGATGATTAATTTCACAA

wildtype AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKFGT DMQMINFTTG EFQLTEACPY LGTHSEESRF GILHLHLQPL
EMKRVGVVFT PADYGKVTSL ILIRNNLTVI DMIGVEGFGA RELLKVGGRL PGAGGSLRFK
VPESTLMDCR RQLKDSKQIL SITKNFKVEN IGPLPITVSS LKINGYNCQG YGFEVLDCHQ
FSLDPNTSRD ISIVFTPDFT SSWVIRDLSL VTAADLEFRF TLNVTLPHHL LPLCADVVPG
PSWEESFWRL TVFFVSLSLL GVILIAFQQA QYILMEFMKT RQRQNASSSS QQNNGPMDVI
SPHSYKSNCK NFLDTYGPSD KGRGKNCLPV NTPQSRIQNA AKRSPATYGH SQKKHKCSVY
YSKHKTSTAA ASSTSTTTEE KQTSPLGSSL PAAKEDICTD AMRENWISLR YASGINVNLQ
KNLTLPKNLL NKEENTLKNT IVFSNPSSEC SMKEGIQTCM FPKETDIKTS ENTAEFKERE
LCPLKTSKKL PENHLPRNSP QYHQPDLPEI SRKNNGNNQQ VPVKNEVDHC ENLKKVDTKP
SSEKKIHKTS REDMFSEKQD IPFVEQEDPY RKKKLQEKRE GNLQNLNWSK SRTCRKNKKR
GVAPVSRPPE QSDLKLVCSD FERSELSSDI NVRSWCIQES TREVCKADAE IASSLPAAQR
EAEGYYQKPE KKCVDKFCSD SSSDCGSSSG SVRASRGSWG SWSSTSSSDG DKKPMVDAQH
FLPAGDSVSQ NDFPSEAPIS LNLSHNICNP MTVNSLPQYA EPSCPSLPAG PTGVEEDKGL
YSPGDLWPTP PVCVTSSLNC TLENGVPCVI QESAPVHNSF IDWSATCEGQ FSSAYCPLEL
NDYNAFPEEN MNYANGFPCP ADVQTDFIDH NSQSTWNTPP NMPAAWGHAS FISSPPYLTS
TRSLSPMSGL FGSIWAPQSD VYENCCPINP TTEHSTHMEN QAVVCKEYYP GFNPFRAYMN
LDIWTTTANR NANFPLSRDS SYCGNV*

mutated AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKFGT DTQMINFTTG EFQLTEACPY LGTHSEESRF GILHLHLQPL
EMKRVGVVFT PADYGKVTSL ILIRNNLTVI DMIGVEGFGA RELLKVGGRL PGAGGSLRFK
VPESTLMDCR RQLKDSKQIL SITKNFKVEN IGPLPITVSS LKINGYNCQG YGFEVLDCHQ
FSLDPNTSRD ISIVFTPDFT SSWVIRDLSL VTAADLEFRF TLNVTLPHHL LPLCADVVPG
PSWEESFWRL TVFFVSLSLL GVILIAFQQA QYILMEFMKT RQRQNASSSS QQNNGPMDVI
SPHSYKSNCK NFLDTYGPSD KGRGKNCLPV NTPQSRIQNA AKRSPATYGH SQKKHKCSVY
YSKHKTSTAA ASSTSTTTEE KQTSPLGSSL PAAKEDICTD AMRENWISLR YASGINVNLQ
KNLTLPKNLL NKEENTLKNT IVFSNPSSEC SMKEGIQTCM FPKETDIKTS ENTAEFKERE
LCPLKTSKKL PENHLPRNSP QYHQPDLPEI SRKNNGNNQQ VPVKNEVDHC ENLKKVDTKP
SSEKKIHKTS REDMFSEKQD IPFVEQEDPY RKKKLQEKRE GNLQNLNWSK SRTCRKNKKR
GVAPVSRPPE QSDLKLVCSD FERSELSSDI NVRSWCIQES TREVCKADAE IASSLPAAQR
EAEGYYQKPE KKCVDKFCSD SSSDCGSSSG SVRASRGSWG SWSSTSSSDG DKKPMVDAQH
FLPAGDSVSQ NDFPSEAPIS LNLSHNICNP MTVNSLPQYA EPSCPSLPAG PTGVEEDKGL
YSPGDLWPTP PVCVTSSLNC TLENGVPCVI QESAPVHNSF IDWSATCEGQ FSSAYCPLEL
NDYNAFPEEN MNYANGFPCP ADVQTDFIDH NSQSTWNTPP NMPAAWGHAS FISSPPYLTS
TRSLSPMSGL FGSIWAPQSD VYENCCPINP TTEHSTHMEN QAVVCKEYYP GFNPFRAYMN
LDIWTTTANR NANFPLSRDS SYCGNV*

speed

1.35 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: 0.960585142487765 (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)

chr4:154514965T>CN/A show variant in all transcripts IGV

HGNC symbol

TMEM131L

Ensembl transcript ID

ENST00000409663

Genbank transcript ID

NM_015196

UniProt peptide

A2VDJ0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1934T>C
cDNA.1986T>C
g.127468T>C

AA changes

M645T Score: 81 explain score(s)

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

645

frameshift

known variant

Reference ID: rs17370297

database	homozygous (C/C)	heterozygous	allele carriers
1000G	130	873	1003
ExAC	5234	22299	27533

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.577	0.988
	0.802	0.988
(flanking)	0.09	0.987

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	127468	wt: 0.2177 / mu: 0.2222 (marginal change - not scored)	wt: TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA mu: TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA	atat\|GCAG
Donor marginally increased	127471	wt: 0.6745 / mu: 0.6849 (marginal change - not scored)	wt: TATGCAGATGATTAA mu: TACGCAGATGATTAA	TGCA\|gatg
Donor marginally increased	127463	wt: 0.9302 / mu: 0.9782 (marginal change - not scored)	wt: GGCACTGATATGCAG mu: GGCACTGATACGCAG	CACT\|gata
Donor increased	127468	wt: 0.23 / mu: 0.60	wt: TGATATGCAGATGAT mu: TGATACGCAGATGAT	ATAT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

645

mutated

not conserved

645

Ptroglodytes

all identical

ENSPTRG00000016527

581

Mmulatta

all identical

ENSMMUG00000009001

498

Fcatus

all identical

ENSFCAG00000003011

498

Mmusculus

all identical

ENSMUSG00000033767

645

Ggallus

all conserved

ENSGALG00000009230

655

Trubripes

not conserved

ENSTRUG00000008066

646

Drerio

not conserved

ENSDARG00000079434

658

Dmelanogaster

no alignment

FBgn0034060

n/a

Celegans

not conserved

C27F2.8

918

VSEL

Xtropicalis

not conserved

ENSXETG00000001833

560

protein features

start (aa)	end (aa)	feature	details
41	869	TOPO_DOM	Extracellular (Potential).	lost
709	709	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
846	846	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
870	890	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
891	1609	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
910	913	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1122	1122	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1302	1331	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4830 / 4830

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

1610 / 1610

position of stopcodon in wt / mu cDNA

4882 / 4882

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

last intron/exon boundary

4607

theoretical NMD boundary in CDS

4504

length of CDS

4830

coding sequence (CDS) position

1934

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

1986

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

127468

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

154514965

original gDNA sequence snippet

TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered gDNA sequence snippet

TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA

original cDNA sequence snippet

CAGATGGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered cDNA sequence snippet

CAGATGGTTTGGCACTGATACGCAGATGATTAATTTCACAA

wildtype AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKATSCDSG
IIEDVKKTTH TPTLKACLFS SVAQGYFRMD SSATQFHIET HENTSGLWSI WYRNHFDRSV
VLNDVFLSKE TKHMLKILNF TGPLFLPPGC WNIFSLKLAV KDIAINLFTN VFLTTNIGAI
FAIPLQIYSA PTKEGSLGFE VIAHCGMHYF MGKSKAGNPN WNGSLSLDQS TWNVDSELAN
KLYERWKKYK NGDVCKRNVL GTTRFAHLKK SKESESFVFF LPRLIAEPGL MLNFSATALR
SRMIKYFVVQ NPSSWPVSLQ LLPLSLYPKP EALVHLLHRW FGTDMQMINF TTGEFQLTEA
CPYLGTHSEE SRFGILHLHL QPLEMKRVGV VFTPADYGKV TSLILIRNNL TVIDMIGVEG
FGARELLKVG GRLPGAGGSL RFKVPESTLM DCRRQLKDSK QILSITKNFK VENIGPLPIT
VSSLKINGYN CQGYGFEVLD CHQFSLDPNT SRDISIVFTP DFTSSWVIRD LSLVTAADLE
FRFTLNVTLP HHLLPLCADV VPGPSWEESF WRLTVFFVSL SLLGVILIAF QQAQYILMEF
MKTRQRQNAS SSSQQNNGPM DVISPHSYKS NCKNFLDTYG PSDKGRGKNC LPVNTPQSRI
QNAAKRSPAT YGHSQKKHKC SVYYSKHKTS TAAASSTSTT TEEKQTSPLG SSLPAAKEDI
CTDAMRENWI SLRYASGINV NLQKNLTLPK NLLNKEENTL KNTIVFSNPS SECSMKEGIQ
TCMFPKETDI KTSENTAEFK ERELCPLKTS KKLPENHLPR NSPQYHQPDL PEISRKNNGN
NQQVPVKNEV DHCENLKKVD TKPSSEKKIH KTSREDMFSE KQDIPFVEQE DPYRKKKLQE
KREGNLQNLN WSKSRTCRKN KKRGVAPVSR PPEQSDLKLV CSDFERSELS SDINVRSWCI
QESTREVCKA DAEIASSLPA AQREAEGYYQ KPEKKCVDKF CSDSSSDCGS SSGSVRASRG
SWGSWSSTSS SDGDKKPMVD AQHFLPAGDS VSQNDFPSEA PISLNLSHNI CNPMTVNSLP
QYAEPSCPSL PAGPTGVEED KGLYSPGDLW PTPPVCVTSS LNCTLENGVP CVIQESAPVH
NSFIDWSATC EGQFSSAYCP LELNDYNAFP EENMNYANGF PCPADVQTDF IDHNSQSTWN
TPPNMPAAWG HASFISSPPY LTSTRSLSPM SGLFGSIWAP QSDVYENCCP INPTTEHSTH
MENQAVVCKE YYPGFNPFRA YMNLDIWTTT ANRNANFPLS RDSSYCGNV*

mutated AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKATSCDSG
IIEDVKKTTH TPTLKACLFS SVAQGYFRMD SSATQFHIET HENTSGLWSI WYRNHFDRSV
VLNDVFLSKE TKHMLKILNF TGPLFLPPGC WNIFSLKLAV KDIAINLFTN VFLTTNIGAI
FAIPLQIYSA PTKEGSLGFE VIAHCGMHYF MGKSKAGNPN WNGSLSLDQS TWNVDSELAN
KLYERWKKYK NGDVCKRNVL GTTRFAHLKK SKESESFVFF LPRLIAEPGL MLNFSATALR
SRMIKYFVVQ NPSSWPVSLQ LLPLSLYPKP EALVHLLHRW FGTDTQMINF TTGEFQLTEA
CPYLGTHSEE SRFGILHLHL QPLEMKRVGV VFTPADYGKV TSLILIRNNL TVIDMIGVEG
FGARELLKVG GRLPGAGGSL RFKVPESTLM DCRRQLKDSK QILSITKNFK VENIGPLPIT
VSSLKINGYN CQGYGFEVLD CHQFSLDPNT SRDISIVFTP DFTSSWVIRD LSLVTAADLE
FRFTLNVTLP HHLLPLCADV VPGPSWEESF WRLTVFFVSL SLLGVILIAF QQAQYILMEF
MKTRQRQNAS SSSQQNNGPM DVISPHSYKS NCKNFLDTYG PSDKGRGKNC LPVNTPQSRI
QNAAKRSPAT YGHSQKKHKC SVYYSKHKTS TAAASSTSTT TEEKQTSPLG SSLPAAKEDI
CTDAMRENWI SLRYASGINV NLQKNLTLPK NLLNKEENTL KNTIVFSNPS SECSMKEGIQ
TCMFPKETDI KTSENTAEFK ERELCPLKTS KKLPENHLPR NSPQYHQPDL PEISRKNNGN
NQQVPVKNEV DHCENLKKVD TKPSSEKKIH KTSREDMFSE KQDIPFVEQE DPYRKKKLQE
KREGNLQNLN WSKSRTCRKN KKRGVAPVSR PPEQSDLKLV CSDFERSELS SDINVRSWCI
QESTREVCKA DAEIASSLPA AQREAEGYYQ KPEKKCVDKF CSDSSSDCGS SSGSVRASRG
SWGSWSSTSS SDGDKKPMVD AQHFLPAGDS VSQNDFPSEA PISLNLSHNI CNPMTVNSLP
QYAEPSCPSL PAGPTGVEED KGLYSPGDLW PTPPVCVTSS LNCTLENGVP CVIQESAPVH
NSFIDWSATC EGQFSSAYCP LELNDYNAFP EENMNYANGF PCPADVQTDF IDHNSQSTWN
TPPNMPAAWG HASFISSPPY LTSTRSLSPM SGLFGSIWAP QSDVYENCCP INPTTEHSTH
MENQAVVCKE YYPGFNPFRA YMNLDIWTTT ANRNANFPLS RDSSYCGNV*

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.960585142487765 (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)

chr4:154514965T>CN/A show variant in all transcripts IGV

HGNC symbol

TMEM131L

Ensembl transcript ID

ENST00000409959

Genbank transcript ID

NM_001131007

UniProt peptide

A2VDJ0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1937T>C
cDNA.1986T>C
g.127468T>C

AA changes

M646T Score: 81 explain score(s)

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

646

frameshift

known variant

Reference ID: rs17370297

database	homozygous (C/C)	heterozygous	allele carriers
1000G	130	873	1003
ExAC	5234	22299	27533

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.577	0.988
	0.802	0.988
(flanking)	0.09	0.987

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	127468	wt: 0.2177 / mu: 0.2222 (marginal change - not scored)	wt: TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA mu: TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA	atat\|GCAG
Donor marginally increased	127471	wt: 0.6745 / mu: 0.6849 (marginal change - not scored)	wt: TATGCAGATGATTAA mu: TACGCAGATGATTAA	TGCA\|gatg
Donor marginally increased	127463	wt: 0.9302 / mu: 0.9782 (marginal change - not scored)	wt: GGCACTGATATGCAG mu: GGCACTGATACGCAG	CACT\|gata
Donor increased	127468	wt: 0.23 / mu: 0.60	wt: TGATATGCAGATGAT mu: TGATACGCAGATGAT	ATAT\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

646

mutated

not conserved

646

Ptroglodytes

all identical

ENSPTRG00000016527

581

Mmulatta

all identical

ENSMMUG00000009001

498

Fcatus

all identical

ENSFCAG00000003011

498

Mmusculus

all identical

ENSMUSG00000033767

645

Ggallus

all conserved

ENSGALG00000009230

655

Trubripes

not conserved

ENSTRUG00000008066

646

Drerio

not conserved

ENSDARG00000079434

658

Dmelanogaster

no alignment

FBgn0034060

n/a

Celegans

not conserved

C27F2.8

918

VSEL

Xtropicalis

not conserved

ENSXETG00000001833

560

protein features

start (aa)	end (aa)	feature	details
41	869	TOPO_DOM	Extracellular (Potential).	lost
709	709	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
846	846	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
870	890	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
891	1609	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
910	913	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1122	1122	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1302	1331	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4833 / 4833

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

1611 / 1611

position of stopcodon in wt / mu cDNA

4882 / 4882

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

50 / 50

chromosome

strand

last intron/exon boundary

4607

theoretical NMD boundary in CDS

4507

length of CDS

4833

coding sequence (CDS) position

1937

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

1986

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

127468

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

154514965

original gDNA sequence snippet

TTATAGGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered gDNA sequence snippet

TTATAGGTTTGGCACTGATACGCAGATGATTAATTTCACAA

original cDNA sequence snippet

CAGATGGTTTGGCACTGATATGCAGATGATTAATTTCACAA

altered cDNA sequence snippet

CAGATGGTTTGGCACTGATACGCAGATGATTAATTTCACAA

wildtype AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKRNV LGTTRFAHLK KSKESESFVF FLPRLIAEPG LMLNFSATAL
RSRMIKYFVV QNPSSWPVSL QLLPLSLYPK PEALVHLLHR WFGTDMQMIN FTTGEFQLTE
ACPYLGTHSE ESRFGILHLH LQPLEMKRVG VVFTPADYGK VTSLILIRNN LTVIDMIGVE
GFGARELLKV GGRLPGAGGS LRFKVPESTL MDCRRQLKDS KQILSITKNF KVENIGPLPI
TVSSLKINGY NCQGYGFEVL DCHQFSLDPN TSRDISIVFT PDFTSSWVIR DLSLVTAADL
EFRFTLNVTL PHHLLPLCAD VVPGPSWEES FWRLTVFFVS LSLLGVILIA FQQAQYILME
FMKTRQRQNA SSSSQQNNGP MDVISPHSYK SNCKNFLDTY GPSDKGRGKN CLPVNTPQSR
IQNAAKRSPA TYGHSQKKHK CSVYYSKHKT STAAASSTST TTEEKQTSPL GSSLPAAKED
ICTDAMRENW ISLRYASGIN VNLQKNLTLP KNLLNKEENT LKNTIVFSNP SSECSMKEGI
QTCMFPKETD IKTSENTAEF KERELCPLKT SKKLPENHLP RNSPQYHQPD LPEISRKNNG
NNQQVPVKNE VDHCENLKKV DTKPSSEKKI HKTSREDMFS EKQDIPFVEQ EDPYRKKKLQ
EKREGNLQNL NWSKSRTCRK NKKRGVAPVS RPPEQSDLKL VCSDFERSEL SSDINVRSWC
IQESTREVCK ADAEIASSLP AAQREAEGYY QKPEKKCVDK FCSDSSSDCG SSSGSVRASR
GSWGSWSSTS SSDGDKKPMV DAQHFLPAGD SVSQNDFPSE APISLNLSHN ICNPMTVNSL
PQYAEPSCPS LPAGPTGVEE DKGLYSPGDL WPTPPVCVTS SLNCTLENGV PCVIQESAPV
HNSFIDWSAT CEGQFSSAYC PLELNDYNAF PEENMNYANG FPCPADVQTD FIDHNSQSTW
NTPPNMPAAW GHASFISSPP YLTSTRSLSP MSGLFGSIWA PQSDVYENCC PINPTTEHST
HMENQAVVCK EYYPGFNPFR AYMNLDIWTT TANRNANFPL SRDSSYCGNV *

mutated AA sequence

MAGLRRPQPG CYCRTAAAVN LLLGVFQVLL PCCRPGGAQG QAIEPLPNVV ELWQAEEGEL
LLPTQGDSEE GLEEPSQEQS FSDKLFSGKG LHFQPSVLDF GIQFLGHPVA KILHAYNPSR
DSEVVVNSVF AAAGHFHVPP VPCRVIPAMG KTSFRIIFLP TEEGSIESSL FINTSSYGVL
SYHVSGIGTR RISTEGSAKQ LPNAYFLLPK VQSIQLSQMQ AETTNTSLLQ VQLECSLHNK
VCQQLKGCYL ESDDVLRLQM SIMVTMENFS KEFEENTQHL LDHLSIVYVA TDESETSDDS
AVNMYILHSG NSLIWIQDIR HFSQRDALSL QFEPVLLPTS TTNFTKIASF TCKAATSCDS
GIIEDVKKTT HTPTLKACLF SSVAQGYFRM DSSATQFHIE THENTSGLWS IWYRNHFDRS
VVLNDVFLSK ETKHMLKILN FTGPLFLPPG CWNIFSLKLA VKDIAINLFT NVFLTTNIGA
IFAIPLQIYS APTKEGSLGF EVIAHCGMHY FMGKSKAGNP NWNGSLSLDQ STWNVDSELA
NKLYERWKKY KNGDVCKRNV LGTTRFAHLK KSKESESFVF FLPRLIAEPG LMLNFSATAL
RSRMIKYFVV QNPSSWPVSL QLLPLSLYPK PEALVHLLHR WFGTDTQMIN FTTGEFQLTE
ACPYLGTHSE ESRFGILHLH LQPLEMKRVG VVFTPADYGK VTSLILIRNN LTVIDMIGVE
GFGARELLKV GGRLPGAGGS LRFKVPESTL MDCRRQLKDS KQILSITKNF KVENIGPLPI
TVSSLKINGY NCQGYGFEVL DCHQFSLDPN TSRDISIVFT PDFTSSWVIR DLSLVTAADL
EFRFTLNVTL PHHLLPLCAD VVPGPSWEES FWRLTVFFVS LSLLGVILIA FQQAQYILME
FMKTRQRQNA SSSSQQNNGP MDVISPHSYK SNCKNFLDTY GPSDKGRGKN CLPVNTPQSR
IQNAAKRSPA TYGHSQKKHK CSVYYSKHKT STAAASSTST TTEEKQTSPL GSSLPAAKED
ICTDAMRENW ISLRYASGIN VNLQKNLTLP KNLLNKEENT LKNTIVFSNP SSECSMKEGI
QTCMFPKETD IKTSENTAEF KERELCPLKT SKKLPENHLP RNSPQYHQPD LPEISRKNNG
NNQQVPVKNE VDHCENLKKV DTKPSSEKKI HKTSREDMFS EKQDIPFVEQ EDPYRKKKLQ
EKREGNLQNL NWSKSRTCRK NKKRGVAPVS RPPEQSDLKL VCSDFERSEL SSDINVRSWC
IQESTREVCK ADAEIASSLP AAQREAEGYY QKPEKKCVDK FCSDSSSDCG SSSGSVRASR
GSWGSWSSTS SSDGDKKPMV DAQHFLPAGD SVSQNDFPSE APISLNLSHN ICNPMTVNSL
PQYAEPSCPS LPAGPTGVEE DKGLYSPGDL WPTPPVCVTS SLNCTLENGV PCVIQESAPV
HNSFIDWSAT CEGQFSSAYC PLELNDYNAF PEENMNYANG FPCPADVQTD FIDHNSQSTW
NTPPNMPAAW GHASFISSPP YLTSTRSLSP MSGLFGSIWA PQSDVYENCC PINPTTEHST
HMENQAVVCK EYYPGFNPFR AYMNLDIWTT TANRNANFPL SRDSSYCGNV *

speed

1.32 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