Results for the protein: A2RRP1

Results for the Protein: A2RRP1

224471843

51594

NBAS

NCBI, UniProt

NBAS_HUMAN RecName: Full=Neuroblastoma-amplified sequence; AltName: Full=Neuroblastoma-amplified gene protein

Known Diseases associated with this Protein:
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)

2

9

1

6

4

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Default View: Sec39 - pfam08314	Swiss-Prot Protein: A2RRP1 Identical to: NP_056993 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6710817	Polymorphism	p.ALA2074THR	N/A
dbSNP	rs16862653	Polymorphism	p.ARG1004GLN	N/A
Swiss-Prot	VAR_068957	Disease	p.ARG1914HIS	Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH)
dbSNP	rs74411619	Polymorphism	p.CYS1009SER	N/A
dbSNP	rs34962722	Polymorphism	p.CYS1453TRP	N/A
Swiss-Prot	VAR_068954	Polymorphism	p.GLN44GLU	N/A
dbSNP	rs13029846	Polymorphism	p.ILE243VAL	N/A
dbSNP	rs4668909	Polymorphism	p.LYS655ARG	N/A
Swiss-Prot	VAR_057614	Polymorphism	p.SER1178ASN	N/A
Swiss-Prot	VAR_068955	Polymorphism	p.VAL949LEU	N/A
OMIM	608025.0001	Disease	p.ARG1914HIS	SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY

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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