Results for the protein: NP

Results for the Protein: NP_001073932

122937398

79659

DYNC2H1

NCBI

cytoplasmic dynein 2 heavy chain 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ASPHYXIATING THORACIC DYSTROPHY 3
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA/B, DIGENIC
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

15

8

15

8

0

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728	RefSeq Protein: NP_001073932 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N2	pfam08393	1.6e-148	1115	1523
AAA_5	pfam07728	7.8e-38	1974	2110

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10895391	Polymorphism	p.ALA3687VAL	N/A
dbSNP	rs589623	Polymorphism	p.ARG2871GLN	N/A
dbSNP	rs17099969	Polymorphism	p.ARG456GLN	N/A
dbSNP	rs72989738	Polymorphism	p.ASN1576LYS	N/A
dbSNP	rs12146610	Polymorphism	p.GLN304LEU	N/A
dbSNP	rs17301182	Polymorphism	p.HIS341TYR	N/A
dbSNP	rs688906	Polymorphism	p.LYS1413ARG	N/A
dbSNP	rs17301750	Polymorphism	p.THR1288ALA	N/A
OMIM	603297.0019	Disease	p.ARG330CYS	SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
OMIM	603297.0007	Disease	p.ARG587CYS	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM	603297.0017	Disease	p.ARG2662GLN	SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
OMIM	603297.0008	Disease	p.ARG2205HIS	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM	603297.0009	Disease	p.ARG2838TER	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM	603297.0004	Disease	p.ASP3015GLY	ASPHYXIATING THORACIC DYSTROPHY 3
OMIM	603297.0012	Disease	p.GLN1537ARG	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM	603297.0016	Disease	p.GLY3916ASP	SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA/B, DIGENIC
OMIM	603297.0006	Disease	p.GLY3355TER	ASPHYXIATING THORACIC DYSTROPHY 3
OMIM	603297.0013	Disease	p.GLY2461VAL	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM	603297.0005	Disease	p.ILE1240THR	ASPHYXIATING THORACIC DYSTROPHY 3
OMIM	603297.0001	Disease	p.MET1991LEU	ASPHYXIATING THORACIC DYSTROPHY 3
OMIM	603297.0002	Disease	p.MET3762VAL	ASPHYXIATING THORACIC DYSTROPHY 3
OMIM	603297.0018	Disease	p.PRO2496SER	SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
OMIM	603297.0014	Disease	p.THR1987ALA	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

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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