Results for the protein: NP

Results for the Protein: NP_000059

148536844

773

CACNA1A

NCBI

voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  EPISODIC ATAXIA, TYPE 2
  EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
  EPISODIC ATAXIA, TYPE 2, INCLUDED
  INCLUDED;;
  MIGR
  MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
  MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,
  MIGRAINE, FAMILIAL HEMIPLEGIC, 1
  MIGRAINE, FAMILIAL HEMIPLEGIC, 1, INCLUDED
  SPINOCEREBELLAR ATAXIA 6
  SPINOCEREBELLAR ATAXIA 6, INCLUDED

20

6

20

6

0

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Default View: Ion_trans - pfam00520 Ca_chan_IQ - pfam08763	RefSeq Protein: NP_000059 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.9e-57	521	713
Ion_trans	pfam00520	2.9e-73	1282	1513
Ion_trans	pfam00520	3.3e-71	1603	1815
Ca_chan_IQ	pfam08763	1.4e-15	1954	1985

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16022	Polymorphism	p.GLU921ASP	N/A
dbSNP	rs16023	Polymorphism	p.GLU996VAL	N/A
dbSNP	rs16027	Polymorphism	p.GLY1108SER	N/A
dbSNP	rs16049	Polymorphism	p.HIS2119ASP	N/A
dbSNP	rs28413664	Polymorphism	p.PRO1014ALA	N/A
dbSNP	rs16051	Polymorphism	p.SER2224PRO	N/A
OMIM	601011.0027	Disease	p.ARG1347GLN	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
OMIM	601011.0001	Disease	p.ARG192GLN	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
OMIM	601011.0018	Disease	p.ARG583GLN	MIGRAINE, FAMILIAL HEMIPLEGIC, 1\|\|MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,\|\|INCLUDED;;\|\|MIGR
OMIM	601011.0011	Disease	p.ARG1666HIS	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0020	Disease	p.ARG1281TER	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0021	Disease	p.ARG1549TER	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0023	Disease	p.ARG1820TER	EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
OMIM	601011.0010	Disease	p.ASP715GLU	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA\|\|MIGRAINE, FAMILIAL HEMIPLEGIC, 1, INCLUDED
OMIM	601011.0025	Disease	p.CYS287TYR	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0014	Disease	p.GLU1757LYS	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0009	Disease	p.GLY293ARG	SPINOCEREBELLAR ATAXIA 6\|\|EPISODIC ATAXIA, TYPE 2, INCLUDED
OMIM	601011.0004	Disease	p.ILE1811LEU	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
OMIM	601011.0024	Disease	p.ILE1710THR	MIGRAINE, FAMILIAL HEMIPLEGIC, 1\|\|SPINOCEREBELLAR ATAXIA 6, INCLUDED
OMIM	601011.0022	Disease	p.PHE1406CYS	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0012	Disease	p.PHE1491SER	EPISODIC ATAXIA, TYPE 2
OMIM	601011.0017	Disease	p.SER218LEU	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
OMIM	601011.0002	Disease	p.THR666MET	MIGRAINE, FAMILIAL HEMIPLEGIC, 1\|\|MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,\|\|INCLUDED;;\|\|MIGR
OMIM	601011.0013	Disease	p.TYR1385CYS	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
OMIM	601011.0003	Disease	p.VAL714ALA	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
OMIM	601011.0019	Disease	p.VAL1457LEU	MIGRAINE, FAMILIAL HEMIPLEGIC, 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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