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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000367338
Querying Taster for transcript #2: ENST00000362061
MT speed 0 s - this script 3.511909 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CACNA1S	disease_causing_automatic	0.999941276968104	simple_aae		affected	0	R528G	single base exchange	rs80338778		show file
CACNA1S	disease_causing_automatic	0.999941276968104	simple_aae		affected	0	R528G	single base exchange	rs80338778		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999941276968104 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051018)
known disease mutation at this position (HGMD CM1411741)
known disease mutation: rs21034 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:201047044G>CN/A show variant in all transcripts IGV

HGNC symbol

CACNA1S

Ensembl transcript ID

ENST00000367338

Genbank transcript ID

N/A

UniProt peptide

Q13698

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1582C>G
cDNA.1694C>G
g.34651C>G

AA changes

R528G Score: 125 explain score(s)

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

528

frameshift

known variant

Reference ID: rs80338778
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs21034 (pathogenic for Hypokalemic periodic paralysis 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM051018)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051018)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1411741)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051018)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1411741)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051018)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.109	1
	3.811	1
(flanking)	-0.121	0.982

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	34644	wt: 0.5375 / mu: 0.5909 (marginal change - not scored)	wt: ATGACACCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCT mu: ATGACACCCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCT	ctcc\|GTGC
Acc gained	34650	0.65	mu: CCCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAG	gctc\|GGCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

528

mutated

not conserved

528

Ptroglodytes

all identical

ENSPTRG00000001827

528

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000004605

n/a

Mmusculus

all identical

ENSMUSG00000026407

528

Ggallus

all identical

ENSGALG00000000730

529

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029457

538

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
418	664	REPEAT	II.	lost
524	542	TRANSMEM	Helical; Name=S4 of repeat II; (Potential).	lost
543	561	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
562	568	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
562	581	TRANSMEM	Helical; Name=S5 of repeat II; (Potential).	might get lost (downstream of altered splice site)
574	574	CONFLICT	A -> R (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
582	636	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
614	614	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
627	628	CONFLICT	YG -> SS (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
628	628	CONFLICT	G -> R (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
637	661	TRANSMEM	Helical; Name=S6 of repeat II; (Potential).	might get lost (downstream of altered splice site)
662	799	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
687	687	MOD_RES	Phosphoserine; by PKA (By similarity).	might get lost (downstream of altered splice site)
786	1068	REPEAT	III.	might get lost (downstream of altered splice site)
800	818	TRANSMEM	Helical; Name=S1 of repeat III; (Potential).	might get lost (downstream of altered splice site)
819	834	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
835	854	TRANSMEM	Helical; Name=S2 of repeat III; (Potential).	might get lost (downstream of altered splice site)
855	866	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
867	885	TRANSMEM	Helical; Name=S3 of repeat III; (Potential).	might get lost (downstream of altered splice site)
886	892	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
893	911	TRANSMEM	Helical; Name=S4 of repeat III; (Potential).	might get lost (downstream of altered splice site)
912	930	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
916	919	CONFLICT	Missing (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
918	919	CONFLICT	VQ -> AR (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
931	950	TRANSMEM	Helical; Name=S5 of repeat III; (Potential).	might get lost (downstream of altered splice site)
951	1040	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
988	1077	REGION	Dihydropyridine binding (By similarity).	might get lost (downstream of altered splice site)
1014	1014	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
1041	1065	TRANSMEM	Helical; Name=S6 of repeat III; (Potential).	might get lost (downstream of altered splice site)
1066	1118	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1105	1384	REPEAT	IV.	might get lost (downstream of altered splice site)
1119	1137	TRANSMEM	Helical; Name=S1 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1138	1152	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1141	1141	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1153	1172	TRANSMEM	Helical; Name=S2 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1173	1180	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1180	1180	CONFLICT	D -> N (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
1181	1199	TRANSMEM	Helical; Name=S3 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1200	1231	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1232	1250	TRANSMEM	Helical; Name=S4 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1251	1269	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1270	1289	TRANSMEM	Helical; Name=S5 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1290	1356	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1294	1295	CONFLICT	LV -> FE (in Ref. 6; AAA20531).	might get lost (downstream of altered splice site)
1318	1318	CONFLICT	R -> RHA (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1323	1323	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
1337	1403	REGION	Dihydropyridine binding (By similarity).	might get lost (downstream of altered splice site)
1349	1392	REGION	Phenylalkylamine binding (By similarity).	might get lost (downstream of altered splice site)
1357	1381	TRANSMEM	Helical; Name=S6 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1382	1873	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1392	1392	MOD_RES	Phosphoserine; by PKA (Potential).	might get lost (downstream of altered splice site)
1410	1421	CA_BIND	By similarity.	might get lost (downstream of altered splice site)
1472	1472	CONFLICT	R -> G (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1510	1510	CONFLICT	I -> M (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1523	1536	HELIX		might get lost (downstream of altered splice site)
1532	1532	CONFLICT	H -> D (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1538	1541	HELIX		might get lost (downstream of altered splice site)
1671	1671	CONFLICT	G -> A (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
1710	1710	CONFLICT	V -> S (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
1815	1815	CONFLICT	A -> G (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5565 / 5565

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

1855 / 1855

position of stopcodon in wt / mu cDNA

5677 / 5677

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

5426

theoretical NMD boundary in CDS

5263

length of CDS

5565

coding sequence (CDS) position

1582

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

1694

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

34651

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

201047044

original gDNA sequence snippet

CCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGG

altered gDNA sequence snippet

CCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAGG

original cDNA sequence snippet

CCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGG

altered cDNA sequence snippet

CCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAGG

wildtype AA sequence

MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT
IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS
GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP
SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE
EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW
VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD
EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI
FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML
MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLRCI RLLRIFKITK
YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF
PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA
VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL
KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF
IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT
SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR
VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL
SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL
YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE
LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY
NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS
EIDDPDESAR ISSAFFRLFR VMRLIKLLSR AEGVRTLLWT FIKSFQALPY VALLIVMLFF
IYAVIGMQMF GKIALVDGTQ INRNNNFQTF PQAVLLLFRC ATGEAWQEIL LACSYGKLCD
PESDYAPGEE YTCGTNFAYY YFISFYMLCA FLVINLFVAV IMDNFDYLTR DWSILGPHHL
DEFKAIWAEY DPEAKGRIKH LDVVTLLRRI QPPLGFGKFC PHRVACKRLV GMNMPLNSDG
TVTFNATLFA LVRTALKIKT EGNFEQANEE LRAIIKKIWK RTSMKLLDQV IPPIGDDEVT
VGKFYATFLI QEHFRKFMKR QEEYYGYRPK KDIVQIQAGL RTIEEEAAPE ICRTVSGDLA
AEEELERAMV EAAMEEGIFR RTGGLFGQVD NFLERTNSLP PVMANQRPLQ FAEIEMEEME
SPVFLEDFPQ DPRTNPLARA NTNNANANVA YGNSNHSNSH VFSSVHYERE FPEETETPAT
RGRALGQPCR VLGPHSKPCV EMLKGLLTQR AMPRGQAPPA PCQCPRVESS MPEDRKSSTP
GSLHEETPHS RSTRENTSRC SAPATALLIQ KALVRGGLGT LAADANFIMA TGQALADACQ
MEPEEVEIMA TELLKGREAP EGMASSLGCL NLGSSLGSLD QHQGSQETLI PPRL*

mutated AA sequence

MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT
IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS
GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP
SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE
EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW
VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD
EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI
FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML
MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLGCI RLLRIFKITK
YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF
PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA
VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL
KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF
IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT
SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR
VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL
SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL
YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE
LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY
NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS
EIDDPDESAR ISSAFFRLFR VMRLIKLLSR AEGVRTLLWT FIKSFQALPY VALLIVMLFF
IYAVIGMQMF GKIALVDGTQ INRNNNFQTF PQAVLLLFRC ATGEAWQEIL LACSYGKLCD
PESDYAPGEE YTCGTNFAYY YFISFYMLCA FLVINLFVAV IMDNFDYLTR DWSILGPHHL
DEFKAIWAEY DPEAKGRIKH LDVVTLLRRI QPPLGFGKFC PHRVACKRLV GMNMPLNSDG
TVTFNATLFA LVRTALKIKT EGNFEQANEE LRAIIKKIWK RTSMKLLDQV IPPIGDDEVT
VGKFYATFLI QEHFRKFMKR QEEYYGYRPK KDIVQIQAGL RTIEEEAAPE ICRTVSGDLA
AEEELERAMV EAAMEEGIFR RTGGLFGQVD NFLERTNSLP PVMANQRPLQ FAEIEMEEME
SPVFLEDFPQ DPRTNPLARA NTNNANANVA YGNSNHSNSH VFSSVHYERE FPEETETPAT
RGRALGQPCR VLGPHSKPCV EMLKGLLTQR AMPRGQAPPA PCQCPRVESS MPEDRKSSTP
GSLHEETPHS RSTRENTSRC SAPATALLIQ KALVRGGLGT LAADANFIMA TGQALADACQ
MEPEEVEIMA TELLKGREAP EGMASSLGCL NLGSSLGSLD QHQGSQETLI PPRL*

speed

0.81 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

disease causing

Model: simple_aae, prob: 0.999941276968104 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM051018)
known disease mutation at this position (HGMD CM1411741)
known disease mutation: rs21034 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:201047044G>CN/A show variant in all transcripts IGV

HGNC symbol

CACNA1S

Ensembl transcript ID

ENST00000362061

Genbank transcript ID

NM_000069

UniProt peptide

Q13698

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1582C>G
cDNA.1809C>G
g.34651C>G

AA changes

R528G Score: 125 explain score(s)

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

528

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.109	1
	3.811	1
(flanking)	-0.121	0.982

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	34644	wt: 0.5375 / mu: 0.5909 (marginal change - not scored)	wt: ATGACACCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCT mu: ATGACACCCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCT	ctcc\|GTGC
Acc gained	34650	0.65	mu: CCCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAG	gctc\|GGCT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

528

mutated

not conserved

528

Ptroglodytes

all identical

ENSPTRG00000001827

528

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000004605

n/a

Mmusculus

all identical

ENSMUSG00000026407

528

Ggallus

all identical

ENSGALG00000000730

529

Trubripes

no homologue

Drerio

all identical

ENSDARG00000029457

538

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
418	664	REPEAT	II.	lost
524	542	TRANSMEM	Helical; Name=S4 of repeat II; (Potential).	lost
543	561	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
562	568	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
562	581	TRANSMEM	Helical; Name=S5 of repeat II; (Potential).	might get lost (downstream of altered splice site)
574	574	CONFLICT	A -> R (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
582	636	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
614	614	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
627	628	CONFLICT	YG -> SS (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
628	628	CONFLICT	G -> R (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
637	661	TRANSMEM	Helical; Name=S6 of repeat II; (Potential).	might get lost (downstream of altered splice site)
662	799	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
687	687	MOD_RES	Phosphoserine; by PKA (By similarity).	might get lost (downstream of altered splice site)
786	1068	REPEAT	III.	might get lost (downstream of altered splice site)
800	818	TRANSMEM	Helical; Name=S1 of repeat III; (Potential).	might get lost (downstream of altered splice site)
819	834	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
835	854	TRANSMEM	Helical; Name=S2 of repeat III; (Potential).	might get lost (downstream of altered splice site)
855	866	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
867	885	TRANSMEM	Helical; Name=S3 of repeat III; (Potential).	might get lost (downstream of altered splice site)
886	892	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
893	911	TRANSMEM	Helical; Name=S4 of repeat III; (Potential).	might get lost (downstream of altered splice site)
912	930	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
916	919	CONFLICT	Missing (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
918	919	CONFLICT	VQ -> AR (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
931	950	TRANSMEM	Helical; Name=S5 of repeat III; (Potential).	might get lost (downstream of altered splice site)
951	1040	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
988	1077	REGION	Dihydropyridine binding (By similarity).	might get lost (downstream of altered splice site)
1014	1014	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
1041	1065	TRANSMEM	Helical; Name=S6 of repeat III; (Potential).	might get lost (downstream of altered splice site)
1066	1118	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1105	1384	REPEAT	IV.	might get lost (downstream of altered splice site)
1119	1137	TRANSMEM	Helical; Name=S1 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1138	1152	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1141	1141	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1153	1172	TRANSMEM	Helical; Name=S2 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1173	1180	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1180	1180	CONFLICT	D -> N (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
1181	1199	TRANSMEM	Helical; Name=S3 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1200	1231	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1232	1250	TRANSMEM	Helical; Name=S4 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1251	1269	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1270	1289	TRANSMEM	Helical; Name=S5 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1290	1356	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1294	1295	CONFLICT	LV -> FE (in Ref. 6; AAA20531).	might get lost (downstream of altered splice site)
1318	1318	CONFLICT	R -> RHA (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1323	1323	SITE	Calcium ion selectivity and permeability (By similarity).	might get lost (downstream of altered splice site)
1337	1403	REGION	Dihydropyridine binding (By similarity).	might get lost (downstream of altered splice site)
1349	1392	REGION	Phenylalkylamine binding (By similarity).	might get lost (downstream of altered splice site)
1357	1381	TRANSMEM	Helical; Name=S6 of repeat IV; (Potential).	might get lost (downstream of altered splice site)
1382	1873	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1392	1392	MOD_RES	Phosphoserine; by PKA (Potential).	might get lost (downstream of altered splice site)
1410	1421	CA_BIND	By similarity.	might get lost (downstream of altered splice site)
1472	1472	CONFLICT	R -> G (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1510	1510	CONFLICT	I -> M (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1523	1536	HELIX		might get lost (downstream of altered splice site)
1532	1532	CONFLICT	H -> D (in Ref. 2; AAB37235).	might get lost (downstream of altered splice site)
1538	1541	HELIX		might get lost (downstream of altered splice site)
1671	1671	CONFLICT	G -> A (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)
1710	1710	CONFLICT	V -> S (in Ref. 1; AAA51902).	might get lost (downstream of altered splice site)
1815	1815	CONFLICT	A -> G (in Ref. 1; AAA51902 and 2; AAB37235).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5622 / 5622

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

1874 / 1874

position of stopcodon in wt / mu cDNA

5849 / 5849

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

228 / 228

chromosome

strand

-1

last intron/exon boundary

5598

theoretical NMD boundary in CDS

5320

length of CDS

5622

coding sequence (CDS) position

1582

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

1809

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

34651

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

201047044

original gDNA sequence snippet

CCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGG

altered gDNA sequence snippet

CCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAGG

original cDNA sequence snippet

CCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGG

altered cDNA sequence snippet

CCCTGGGCATCTCCGTGCTCGGCTGCATCCGCCTCCTGAGG

wildtype AA sequence

MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT
IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS
GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP
SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE
EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW
VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD
EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI
FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML
MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLRCI RLLRIFKITK
YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF
PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA
VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL
KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF
IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT
SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR
VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL
SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL
YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE
LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY
NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS
EIDTFLASSG GLYCLGGGCG NVDPDESARI SSAFFRLFRV MRLIKLLSRA EGVRTLLWTF
IKSFQALPYV ALLIVMLFFI YAVIGMQMFG KIALVDGTQI NRNNNFQTFP QAVLLLFRCA
TGEAWQEILL ACSYGKLCDP ESDYAPGEEY TCGTNFAYYY FISFYMLCAF LVINLFVAVI
MDNFDYLTRD WSILGPHHLD EFKAIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKFCP
HRVACKRLVG MNMPLNSDGT VTFNATLFAL VRTALKIKTE GNFEQANEEL RAIIKKIWKR
TSMKLLDQVI PPIGDDEVTV GKFYATFLIQ EHFRKFMKRQ EEYYGYRPKK DIVQIQAGLR
TIEEEAAPEI CRTVSGDLAA EEELERAMVE AAMEEGIFRR TGGLFGQVDN FLERTNSLPP
VMANQRPLQF AEIEMEEMES PVFLEDFPQD PRTNPLARAN TNNANANVAY GNSNHSNSHV
FSSVHYEREF PEETETPATR GRALGQPCRV LGPHSKPCVE MLKGLLTQRA MPRGQAPPAP
CQCPRVESSM PEDRKSSTPG SLHEETPHSR STRENTSRCS APATALLIQK ALVRGGLGTL
AADANFIMAT GQALADACQM EPEEVEIMAT ELLKGREAPE GMASSLGCLN LGSSLGSLDQ
HQGSQETLIP PRL*

mutated AA sequence

MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT
IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS
GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP
SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE
EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW
VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD
EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI
FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML
MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLGCI RLLRIFKITK
YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF
PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA
VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL
KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF
IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT
SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR
VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL
SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL
YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE
LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY
NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS
EIDTFLASSG GLYCLGGGCG NVDPDESARI SSAFFRLFRV MRLIKLLSRA EGVRTLLWTF
IKSFQALPYV ALLIVMLFFI YAVIGMQMFG KIALVDGTQI NRNNNFQTFP QAVLLLFRCA
TGEAWQEILL ACSYGKLCDP ESDYAPGEEY TCGTNFAYYY FISFYMLCAF LVINLFVAVI
MDNFDYLTRD WSILGPHHLD EFKAIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKFCP
HRVACKRLVG MNMPLNSDGT VTFNATLFAL VRTALKIKTE GNFEQANEEL RAIIKKIWKR
TSMKLLDQVI PPIGDDEVTV GKFYATFLIQ EHFRKFMKRQ EEYYGYRPKK DIVQIQAGLR
TIEEEAAPEI CRTVSGDLAA EEELERAMVE AAMEEGIFRR TGGLFGQVDN FLERTNSLPP
VMANQRPLQF AEIEMEEMES PVFLEDFPQD PRTNPLARAN TNNANANVAY GNSNHSNSHV
FSSVHYEREF PEETETPATR GRALGQPCRV LGPHSKPCVE MLKGLLTQRA MPRGQAPPAP
CQCPRVESSM PEDRKSSTPG SLHEETPHSR STRENTSRCS APATALLIQK ALVRGGLGTL
AADANFIMAT GQALADACQM EPEEVEIMAT ELLKGREAPE GMASSLGCLN LGSSLGSLDQ
HQGSQETLIP PRL*

speed

0.65 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems