MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000378402
MT speed 0 s - this script 2.917064 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PKHD1L1	polymorphism_automatic	3.44595743051457e-07	simple_aae		affected		H3050Q	single base exchange	rs1783147		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999655404257 (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)

chr8:110491840C>GN/A show variant in all transcripts IGV

HGNC symbol

PKHD1L1

Ensembl transcript ID

ENST00000378402

Genbank transcript ID

NM_177531

UniProt peptide

Q86WI1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.9150C>G
cDNA.9254C>G
g.117135C>G

AA changes

H3050Q Score: 24 explain score(s)

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

3050

frameshift

known variant

Reference ID: rs1783147

database	homozygous (G/G)	heterozygous	allele carriers
1000G	475	1182	1657
ExAC	6309	20149	26458

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.595	0.012
	-0.295	0.015
(flanking)	3.181	0.993

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	117134	wt: 0.83 / mu: 1.00	wt: ACCTCACCCAGGGGC mu: ACCTCAGCCAGGGGC	CTCA\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3050

mutated

not conserved

3050

Ptroglodytes

all identical

ENSPTRG00000030951

3050

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000007614

n/a

Drerio

not conserved

ENSDARG00000091116

3027

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
21	4210	TOPO_DOM	Extracellular (Potential).	lost
3036	3174	DOMAIN	G8 2.	lost
3293	3315	REPEAT	PbH1 5.	might get lost (downstream of altered splice site)
3355	3377	REPEAT	PbH1 6.	might get lost (downstream of altered splice site)
3416	3438	REPEAT	PbH1 7.	might get lost (downstream of altered splice site)
3471	3493	REPEAT	PbH1 8.	might get lost (downstream of altered splice site)
3527	3548	REPEAT	PbH1 9.	might get lost (downstream of altered splice site)
3736	3736	CARBOHYD	O-linked (GalNAc...) (Potential).	might get lost (downstream of altered splice site)
4061	4061	CONFLICT	K -> N (in Ref. 4; CAB63761).	might get lost (downstream of altered splice site)
4188	4200	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
4211	4231	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
4232	4243	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

12732 / 12732

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

4244 / 4244

position of stopcodon in wt / mu cDNA

12836 / 12836

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

105 / 105

chromosome

strand

last intron/exon boundary

12826

theoretical NMD boundary in CDS

12671

length of CDS

12732

coding sequence (CDS) position

9150

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

9254

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

117135

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

110491840

original gDNA sequence snippet

AATAATTATACTGTACCTCACCCAGGGGCAAATGTGATTAT

altered gDNA sequence snippet

AATAATTATACTGTACCTCAGCCAGGGGCAAATGTGATTAT

original cDNA sequence snippet

AATAATTATACTGTACCTCACCCAGGGGCAAATGTGATTAT

altered cDNA sequence snippet

AATAATTATACTGTACCTCAGCCAGGGGCAAATGTGATTAT

wildtype AA sequence

MGHLWLLGIW GLCGLLLCAA DPSTDGSQII PKVTEIIPKY GSINGATRLT IRGEGFSQAN
QFNYGVDNAE LGNSVQLISS FQSITCDVEK DASHSTQITC YTRAMPEDSY TVRVSVDGVP
VTENNTCKGH INSWECTFNA KSFRTPTIRS ITPLSGTPGT LITIQGRIFT DVYGSNIALS
SNGKNVRILR VYIGGMPCEL LIPQSDNLYG LKLDHPNGDM GSMVCKTTGT FIGHHNVSFI
LDNDYGRSFP QKMAYFVSSL NKIAMFQTYA EVTMIFPSQG SIRGGTTLTI SGRFFDQTDF
PVRVLVGGEP CDILNVTENS ICCKTPPKPH ILKTVYPGGR GLKLEVWNNS RPIRLEEILE
YNEKTPGYMG ASWVDSASYI WLMEQDTFVA RFSGFLVAPD SDVYRFYIKG DDRYAIYFSQ
TGLPEDKVRI AYHSANANSY FSSPTQRSDD IHLQKGKEYY IEILLQEYRL SAFVDVGLYQ
YRNVYTEQQT GDAVNEEQVI KSQSTILQEV QVITLENWET TNAINEVQKI KVTSPCVEAN
SCSLYQYRLI YNMEKTVFLP ADASEFILQS ALNDLWSIKP DTVQVIRTQN PQSYVYMVTF
ISTRGDFDLL GYEVVEGNNV TLDITEQTKG KPNLETFTLN WDGIASKPLT LWSSEAEFQG
AVEEMVSTKC PPQIANFEEG FVVKYFRDYE TDFNLEHINR GQKTAETDAY CGRYSLKNPA
VLFDSADVKP NRRPYGDILL FPYNQLCLAY KGFLANYIGL KFQYQDNSKI TRSTDTQFTY
NFAYGNNWTY TCIDLLDLVR TKYTGTNVSL QRISLHKASE SQSFYVDVVY IGHTSTISTL
DEMPKRRLPA LANKGIFLEH FQVNQTKTNG PTMTNQYSVT MTSYNCSYNI PMMAVSFGQI
ITHETENEFV YRGNNWPGES KIHIQRIQAA SPPLSGSFDI QAYGHILKGL PAAVSAADLQ
FALQSLEGMG RISVTREGTC AGYAWNIKWR STCGKQNLLQ INDSNIIGEK ANMTVTRIKE
GGLFRQHVLG DLLRTPSQQP QVEVYVNGIP AKCSGDCGFT WDSNITPLVL AISPSQGSYE
EGTILTIVGS GFSPSSAVTV SVGPVGCSLL SVDEKELKCQ ILNGSAGHAP VAVSMADVGL
AQNVGGEEFY FVYQSQISHI WPDSGSIAGG TLLTLSGFGF NENSKVLVGN ETCNVIEGDL
NRITCRTPKK TEGTVDISVT TNGFQATARD AFSYNCLQTP IITDFSPKVR TILGEVNLTI
KGYNFGNELT QNMAVYVGGK TCQILHWNFT DIRCLLPKLS PGKHDIYVEV RNWGFASTRD
KLNSSIQYVL EVTSMFPQRG SLFGGTEITI RGFGFSTIPA ENTVLLGSIP CNVTSSSENV
IKCILHSTGN IFRITNNGKD SVHGLGYAWS PPVLNVSVGD TVAWHWQTHP FLRGIGYRIF
SVSSPGSVIY DGKGFTSGRQ KSTSGSFSYQ FTSPGIHYYS SGYVDEAHSI FLQGVINVLP
AETRHIPLHL FVGRSEATYA YGGPENLHLG SSVAGCLATE PLCSLNNTRV KNSKRLLFEV
SSCFSPSISN ITPSTGTVNE LITIIGHGFS NLPWANKVTI GSYPCVVEES SEDSITCHID
PQNSMDVGIR ETVTLTVYNL GTAINTLSNE FDRRFVLLPN IDLVLPNAGS TTGMTSVTIK
GSGFAVSSAG VKVLMGHFPC KVLSVNYTAI ECETSPAAQQ LVDVDLLIHG VPAQCQGNCT
FSYLESITPY ITGVFPNSVI GSVKVLIEGE GLGTVLEDIA VFIGNQQFRA IEVNENNITA
LVTPLPVGHH SVSVVVGSKG LALGNLTVSS PPVASLSPTS GSIGGGTTLV ITGNGFYPGN
TTVTIGDEPC QIISINPNEV YCRTPAGTTG MVDVKIFVNT IAYPPLLFTY ALEDTPFLRG
IIPSRGPPGT EIEITGSNFG FEILEISVMI NNIQCNVTMA NDSVVQCIVG DHAGGTFPVM
MHHKTKGSAM STVVFEYPLN IQNINPSQGS FGGGQTMTVT GTGFNPQNSI ILVCGSECAI
DRLRSDYTTL LCEIPSNNGT GAEQACEVSV VNGKDLSQSM TPFTYAVSLT PLITAVSPKR
GSTAGGTRLT VVGSGFSENM EDVHITIAEA KCDVEYSNKT HIICMTDAHT LSGWAPVCVH
IRGVGMAKLD NADFLYVDAW SSNFSWGGKS PPEEGSLVVI TKGQTILLDQ STPILKMLLI
QGGTLIFDEA DIELQAENIL ITDGGVLQIG TETSPFQHKA VITLHGHLRS PELPVYGAKT
LAVREGILDL HGVPVPVTWT RLAHTAKAGE RILILQEAVT WKPGDNIVIA STGHRHSQGE
NEKMTIASVS ADGINITLSN PLNYTHLGIT VTLPDGTLFE ARAEVGILTR NILIRGSDNV
EWNNKIPACP DGFDTGEFAT QTCLQGKFGE EIGSDQFGGC VMFHAPVPGA NMVTGRIEYV
EVFHAGQAFR LGRYPIHWHL LGDLQFKSYV RGCAIHQAYN RAVTIHNTHH LLVERNIIYD
IKGGAFFIED GIEHGNILQY NLAVFVQQST SLLNDDVTPA AFWVTNPNNT IRHNAVAGGT
HFGFWYRMNN HPDGPSYDRN ICQKRVPLGE FFNNTVHSQG WFGMWIFEEY FPMQTGSCTS
TVPAPAIFNS LTTWNCQKGA EWVNGGALQF HNFVMVNNYE AGIETKRILA PYVGGWGETN
GAVIKNAKIV GHLDELGMGS AFCTAKGLVL PFSEGLTVSS VHFMNFDRPN CVALGVTSIS
GVCNDRCGGW SAKFVDVQYS HTPNKAGFRW EHEMVMIDVD GSLTGHKGHT VIPHSSLLDP
SHCTQEAEWS IGFPGSVCDA SVSFHRLAFN QPSPVSLLEK DVVLSDSFGT SIIPFQKKRL
THMSGWMALI PNANHINWYF KGVDHITNIS YTSTFYGFKE EDYVIISHNF TQNPDMFNII
DMRNGSSNPL NWNTSKNGDW HLEANTSTLY YLVSGRNDLH QSQLISGNLD PDVKDVVINF
QAYCCILQDC FPVHPPSRKP IPKKRPATYN LWSNDSFWQS SRENNYTVPH PGANVIIPEG
TWIVADIDMP SMERLIIWGV LELEDKYNVG AAESSYREVV LNATYISLQG GRLIGGWEDN
PFKGDLKIVL RGNHTTQDWA LPEGPNQGAK VLGVFGELDL HGIPHSIYKT KLSETAFAGS
KVLSLMDAVD WQEGEEIVIT TTSYDFHQTE TRSIVKILHD HKILILNDSL SYTHFAEKYH
VPGTGESYTL AADVGILSRN IKIVGEDYPG WSEDSFGARV LVGSFTENMM TFKGNARISN
VEFYHSGQEG FRDSTDPRYA VTFLNLGQIQ EHGSSYIRGC AFHHGFSPAI GVFGTDGLDI
DDNIIHFTVG EGIRIWGNAN RVRGNLIALS VWPGTYQNRK DLSSTLWHAA IEINRGTNTV
LQNNVVAGFG RAGYRIDGEP CPGQFNPVEK WFDNEAHGGL YGIYMNQDGL PGCSLIQGFT
IWTCWDYGIY FQTTESVHIY NVTLVDNGMA IFPMIYMPAA ISHKISSKNV QIKSSLIVGS
SPGFNCSDVL TNDDPNIELT AAHRSPRSPS GGRSGICWPT FASAHNMAPR KPHAGIMSYN
AISGLLDISG STFVGFKNVC SGETNVIFIT NPLNEDLQHP IHVKNIKLVD TTEQSKIFIH
RPDISKVNPS DCVDMVCDAK RKSFLRDIDG SFLGNAGSVI PQAEYEWDGN SQVGIGDYRI
PKAMLTFLNG SRIPVTEKAP HKGIIRDSTC KYLPEWQSYQ CFGMEYAMMV IESLDPDTET
RRLSPVAIMG NGYVDLINGP QDHGWCAGYT CQRRLSLFHS IVALNKSYEV YFTGTSPQNL
RLMLLNVDHN KAVLVGIFFS TLQRLDVYVN NLLVCPKTTI WNAQQKHCEL NNHLYKDQFL
PNLDSTVLGE NYFDGTYQML YLLVKGTIPV EIHTATVIFV SFQLSVATED DFYTSHNLVK
NLALFLKIPS DKIRISKIRG KSLRRKRSMG FIIEIEIGDP PIQFISNGTT GQMQLSELQE
IAGSLGQAVI LGNISSILGF NISSMSITNP LPSPSDSGWI KVTAQPVERS AFPVHHVAFV
SSLLVITQPV AAQPGQPFPQ QPSVKATDSD GNCVSVGITA LTLRAILKDS NNNQVNGLSG
NTTIPFSSCW ANYTDLTPLR TGKNYKIEFI LDNVVGVESR TFSLLAESVS SSGSSSSSNS
KASTVGTYAQ IMTVVISCLV GRMWLLEIFM AAVSTLNITL RSY*

mutated AA sequence

MGHLWLLGIW GLCGLLLCAA DPSTDGSQII PKVTEIIPKY GSINGATRLT IRGEGFSQAN
QFNYGVDNAE LGNSVQLISS FQSITCDVEK DASHSTQITC YTRAMPEDSY TVRVSVDGVP
VTENNTCKGH INSWECTFNA KSFRTPTIRS ITPLSGTPGT LITIQGRIFT DVYGSNIALS
SNGKNVRILR VYIGGMPCEL LIPQSDNLYG LKLDHPNGDM GSMVCKTTGT FIGHHNVSFI
LDNDYGRSFP QKMAYFVSSL NKIAMFQTYA EVTMIFPSQG SIRGGTTLTI SGRFFDQTDF
PVRVLVGGEP CDILNVTENS ICCKTPPKPH ILKTVYPGGR GLKLEVWNNS RPIRLEEILE
YNEKTPGYMG ASWVDSASYI WLMEQDTFVA RFSGFLVAPD SDVYRFYIKG DDRYAIYFSQ
TGLPEDKVRI AYHSANANSY FSSPTQRSDD IHLQKGKEYY IEILLQEYRL SAFVDVGLYQ
YRNVYTEQQT GDAVNEEQVI KSQSTILQEV QVITLENWET TNAINEVQKI KVTSPCVEAN
SCSLYQYRLI YNMEKTVFLP ADASEFILQS ALNDLWSIKP DTVQVIRTQN PQSYVYMVTF
ISTRGDFDLL GYEVVEGNNV TLDITEQTKG KPNLETFTLN WDGIASKPLT LWSSEAEFQG
AVEEMVSTKC PPQIANFEEG FVVKYFRDYE TDFNLEHINR GQKTAETDAY CGRYSLKNPA
VLFDSADVKP NRRPYGDILL FPYNQLCLAY KGFLANYIGL KFQYQDNSKI TRSTDTQFTY
NFAYGNNWTY TCIDLLDLVR TKYTGTNVSL QRISLHKASE SQSFYVDVVY IGHTSTISTL
DEMPKRRLPA LANKGIFLEH FQVNQTKTNG PTMTNQYSVT MTSYNCSYNI PMMAVSFGQI
ITHETENEFV YRGNNWPGES KIHIQRIQAA SPPLSGSFDI QAYGHILKGL PAAVSAADLQ
FALQSLEGMG RISVTREGTC AGYAWNIKWR STCGKQNLLQ INDSNIIGEK ANMTVTRIKE
GGLFRQHVLG DLLRTPSQQP QVEVYVNGIP AKCSGDCGFT WDSNITPLVL AISPSQGSYE
EGTILTIVGS GFSPSSAVTV SVGPVGCSLL SVDEKELKCQ ILNGSAGHAP VAVSMADVGL
AQNVGGEEFY FVYQSQISHI WPDSGSIAGG TLLTLSGFGF NENSKVLVGN ETCNVIEGDL
NRITCRTPKK TEGTVDISVT TNGFQATARD AFSYNCLQTP IITDFSPKVR TILGEVNLTI
KGYNFGNELT QNMAVYVGGK TCQILHWNFT DIRCLLPKLS PGKHDIYVEV RNWGFASTRD
KLNSSIQYVL EVTSMFPQRG SLFGGTEITI RGFGFSTIPA ENTVLLGSIP CNVTSSSENV
IKCILHSTGN IFRITNNGKD SVHGLGYAWS PPVLNVSVGD TVAWHWQTHP FLRGIGYRIF
SVSSPGSVIY DGKGFTSGRQ KSTSGSFSYQ FTSPGIHYYS SGYVDEAHSI FLQGVINVLP
AETRHIPLHL FVGRSEATYA YGGPENLHLG SSVAGCLATE PLCSLNNTRV KNSKRLLFEV
SSCFSPSISN ITPSTGTVNE LITIIGHGFS NLPWANKVTI GSYPCVVEES SEDSITCHID
PQNSMDVGIR ETVTLTVYNL GTAINTLSNE FDRRFVLLPN IDLVLPNAGS TTGMTSVTIK
GSGFAVSSAG VKVLMGHFPC KVLSVNYTAI ECETSPAAQQ LVDVDLLIHG VPAQCQGNCT
FSYLESITPY ITGVFPNSVI GSVKVLIEGE GLGTVLEDIA VFIGNQQFRA IEVNENNITA
LVTPLPVGHH SVSVVVGSKG LALGNLTVSS PPVASLSPTS GSIGGGTTLV ITGNGFYPGN
TTVTIGDEPC QIISINPNEV YCRTPAGTTG MVDVKIFVNT IAYPPLLFTY ALEDTPFLRG
IIPSRGPPGT EIEITGSNFG FEILEISVMI NNIQCNVTMA NDSVVQCIVG DHAGGTFPVM
MHHKTKGSAM STVVFEYPLN IQNINPSQGS FGGGQTMTVT GTGFNPQNSI ILVCGSECAI
DRLRSDYTTL LCEIPSNNGT GAEQACEVSV VNGKDLSQSM TPFTYAVSLT PLITAVSPKR
GSTAGGTRLT VVGSGFSENM EDVHITIAEA KCDVEYSNKT HIICMTDAHT LSGWAPVCVH
IRGVGMAKLD NADFLYVDAW SSNFSWGGKS PPEEGSLVVI TKGQTILLDQ STPILKMLLI
QGGTLIFDEA DIELQAENIL ITDGGVLQIG TETSPFQHKA VITLHGHLRS PELPVYGAKT
LAVREGILDL HGVPVPVTWT RLAHTAKAGE RILILQEAVT WKPGDNIVIA STGHRHSQGE
NEKMTIASVS ADGINITLSN PLNYTHLGIT VTLPDGTLFE ARAEVGILTR NILIRGSDNV
EWNNKIPACP DGFDTGEFAT QTCLQGKFGE EIGSDQFGGC VMFHAPVPGA NMVTGRIEYV
EVFHAGQAFR LGRYPIHWHL LGDLQFKSYV RGCAIHQAYN RAVTIHNTHH LLVERNIIYD
IKGGAFFIED GIEHGNILQY NLAVFVQQST SLLNDDVTPA AFWVTNPNNT IRHNAVAGGT
HFGFWYRMNN HPDGPSYDRN ICQKRVPLGE FFNNTVHSQG WFGMWIFEEY FPMQTGSCTS
TVPAPAIFNS LTTWNCQKGA EWVNGGALQF HNFVMVNNYE AGIETKRILA PYVGGWGETN
GAVIKNAKIV GHLDELGMGS AFCTAKGLVL PFSEGLTVSS VHFMNFDRPN CVALGVTSIS
GVCNDRCGGW SAKFVDVQYS HTPNKAGFRW EHEMVMIDVD GSLTGHKGHT VIPHSSLLDP
SHCTQEAEWS IGFPGSVCDA SVSFHRLAFN QPSPVSLLEK DVVLSDSFGT SIIPFQKKRL
THMSGWMALI PNANHINWYF KGVDHITNIS YTSTFYGFKE EDYVIISHNF TQNPDMFNII
DMRNGSSNPL NWNTSKNGDW HLEANTSTLY YLVSGRNDLH QSQLISGNLD PDVKDVVINF
QAYCCILQDC FPVHPPSRKP IPKKRPATYN LWSNDSFWQS SRENNYTVPQ PGANVIIPEG
TWIVADIDMP SMERLIIWGV LELEDKYNVG AAESSYREVV LNATYISLQG GRLIGGWEDN
PFKGDLKIVL RGNHTTQDWA LPEGPNQGAK VLGVFGELDL HGIPHSIYKT KLSETAFAGS
KVLSLMDAVD WQEGEEIVIT TTSYDFHQTE TRSIVKILHD HKILILNDSL SYTHFAEKYH
VPGTGESYTL AADVGILSRN IKIVGEDYPG WSEDSFGARV LVGSFTENMM TFKGNARISN
VEFYHSGQEG FRDSTDPRYA VTFLNLGQIQ EHGSSYIRGC AFHHGFSPAI GVFGTDGLDI
DDNIIHFTVG EGIRIWGNAN RVRGNLIALS VWPGTYQNRK DLSSTLWHAA IEINRGTNTV
LQNNVVAGFG RAGYRIDGEP CPGQFNPVEK WFDNEAHGGL YGIYMNQDGL PGCSLIQGFT
IWTCWDYGIY FQTTESVHIY NVTLVDNGMA IFPMIYMPAA ISHKISSKNV QIKSSLIVGS
SPGFNCSDVL TNDDPNIELT AAHRSPRSPS GGRSGICWPT FASAHNMAPR KPHAGIMSYN
AISGLLDISG STFVGFKNVC SGETNVIFIT NPLNEDLQHP IHVKNIKLVD TTEQSKIFIH
RPDISKVNPS DCVDMVCDAK RKSFLRDIDG SFLGNAGSVI PQAEYEWDGN SQVGIGDYRI
PKAMLTFLNG SRIPVTEKAP HKGIIRDSTC KYLPEWQSYQ CFGMEYAMMV IESLDPDTET
RRLSPVAIMG NGYVDLINGP QDHGWCAGYT CQRRLSLFHS IVALNKSYEV YFTGTSPQNL
RLMLLNVDHN KAVLVGIFFS TLQRLDVYVN NLLVCPKTTI WNAQQKHCEL NNHLYKDQFL
PNLDSTVLGE NYFDGTYQML YLLVKGTIPV EIHTATVIFV SFQLSVATED DFYTSHNLVK
NLALFLKIPS DKIRISKIRG KSLRRKRSMG FIIEIEIGDP PIQFISNGTT GQMQLSELQE
IAGSLGQAVI LGNISSILGF NISSMSITNP LPSPSDSGWI KVTAQPVERS AFPVHHVAFV
SSLLVITQPV AAQPGQPFPQ QPSVKATDSD GNCVSVGITA LTLRAILKDS NNNQVNGLSG
NTTIPFSSCW ANYTDLTPLR TGKNYKIEFI LDNVVGVESR TFSLLAESVS SSGSSSSSNS
KASTVGTYAQ IMTVVISCLV GRMWLLEIFM AAVSTLNITL RSY*

speed

0.86 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems