Results for the protein: Q8NCM8

Results for the Protein: Q8NCM8

311033479

79659

DYNC2H1

NCBI, UniProt

DYHC2_HUMAN RecName: Full=Cytoplasmic dynein 2 heavy chain 1; AltName: Full=Cytoplasmic dynein 2 heavy chain; AltName: Full=Dynein cytoplasmic heavy chain 2; AltName: Full=Dynein heavy chain 11; Short=hDHC11; AltName: Full=Dynein heavy chain isotype 1B

Known Diseases associated with this Protein:
  ASPHYXIATING THORACIC DYSTROPHY 3
  ASPHYXIATING THORACIC DYSTROPHY 3 (ATD3)
  SHORT RIB-POLYDACTYLY SYNDROME 2B (SRPS2B)
  SHORT RIB-POLYDACTYLY SYNDROME 3 (SRPS3)
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA/B, DIGENIC
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

50

14

15

8

41

Tips:

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q8NCM8 Identical to: NP_001368 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N1	pfam08385	1e-07	134	676
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 ↕
Swiss-Prot	VAR_069602	Disease	p.ALA2304THR	Asphyxiating thoracic dystrophy 3 (ATD3)
dbSNP	rs10895391	Polymorphism	p.ALA3680VAL	N/A
Swiss-Prot	VAR_069598	Disease	p.ARG1423CYS	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_069591	Disease	p.ARG330CYS	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_069613	Disease	p.ARG3806CYS	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069593	Disease	p.ARG430CYS	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_063243	Disease	p.ARG587CYS	Short rib-polydactyly syndrome 3 (SRPS3)
Swiss-Prot	VAR_069604	Disease	p.ARG2481GLN	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069610	Disease	p.ARG2662GLN	Short rib-polydactyly syndrome 2B (SRPS2B)
dbSNP	rs589623	Polymorphism	p.ARG2871GLN	N/A
dbSNP	rs17099969	Polymorphism	p.ARG456GLN	N/A
Swiss-Prot	VAR_069592	Disease	p.ARG338GLY	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_063248	Disease	p.ARG2205HIS	Short rib-polydactyly syndrome 3 (SRPS3)
Swiss-Prot	VAR_038867	Polymorphism	p.ARG1221LYS	N/A
Swiss-Prot	VAR_038866	Polymorphism	p.ARG789LYS	N/A
Swiss-Prot	VAR_069606	Disease	p.ARG2532TRP	Asphyxiating thoracic dystrophy 3 (ATD3)
dbSNP	rs72989738	Polymorphism	p.ASN1576LYS	N/A
Swiss-Prot	VAR_069603	Disease	p.ASN2362SER	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_063250	Disease	p.ASP3015GLY	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_063245	Disease	p.GLN1537ARG	Asphyxiating thoracic dystrophy 3 (ATD3)
dbSNP	rs12146610	Polymorphism	p.GLN304LEU	N/A
Swiss-Prot	VAR_038873	Polymorphism	p.GLN4139PRO	N/A
Swiss-Prot	VAR_069599	Disease	p.GLY1442ASP	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069615	Polymorphism	p.GLY3909ASP	N/A
Swiss-Prot	VAR_063249	Disease	p.GLY2461VAL	Short rib-polydactyly syndrome 3 (SRPS3)
dbSNP	rs17301182	Polymorphism	p.HIS341TYR	N/A
Swiss-Prot	VAR_069611	Disease	p.ILE2819MET	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_063244	Disease	p.ILE1240THR	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069609	Disease	p.ILE2640THR	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069616	Disease	p.LEU4232ARG	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069596	Disease	p.LEU1228ILE	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069595	Disease	p.LEU871PRO	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_063251	Disease	p.LEU3762VAL	Asphyxiating thoracic dystrophy 3 (ATD3)
dbSNP	rs688906	Polymorphism	p.LYS1413ARG	N/A
Swiss-Prot	VAR_069594	Disease	p.LYS495ARG	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_063247	Disease	p.MET1991LEU	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069600	Disease	p.MET1991LYS	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069597	Disease	p.MET1379VAL	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069601	Disease	p.MET2227VAL	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_063242	Disease	p.PHE209ILE	Short rib-polydactyly syndrome 3 (SRPS3)
Swiss-Prot	VAR_069612	Disease	p.PRO3381LEU	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069605	Disease	p.PRO2496SER	Short rib-polydactyly syndrome 2B (SRPS2B)
Swiss-Prot	VAR_038872	Polymorphism	p.SER3976ASN	N/A
dbSNP	rs17301750	Polymorphism	p.THR1288ALA	N/A
Swiss-Prot	VAR_063246	Disease	p.THR1987ALA	Short rib-polydactyly syndrome 3 (SRPS3)
Swiss-Prot	VAR_038862	Polymorphism	p.THR302PRO	N/A
Swiss-Prot	VAR_069614	Disease	p.TRP3847GLY	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069608	Disease	p.TYR2573CYS	Asphyxiating thoracic dystrophy 3 (ATD3)
Swiss-Prot	VAR_069607	Disease	p.VAL2555MET	Asphyxiating thoracic dystrophy 3 (ATD3)
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.GLY3909ASP	SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA/B, DIGENIC
OMIM	603297.0006	Disease	p.GLY3348TER	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.MET3755VAL	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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