Results for the protein: Q99502

Results for the Protein: Q99502

3183005

2138

EYA1

NCBI, UniProt

EYA1_HUMAN RecName: Full=Eyes absent homolog 1

Known Diseases associated with this Protein:
  ANTERIOR SEGMENT ANOMALIES
  ANTERIOR SEGMENT ANOMALIES AND CATARACT
  ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT (ASA)
  BRANCHIOOTIC SYNDROME 1
  BRANCHIOOTIC SYNDROME 1 (BOS1)
  BRANCHIOOTORENAL SYNDROME 1
  BRANCHIOOTORENAL SYNDROME 1 (BOR1)
  BRANCHIOOTORENAL SYNDROME 1, INCLUDED
  BRANCHIOOTORENAL SYNDROME WITH CATARACT

23

3

8

2

16

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Default View:	Swiss-Prot Protein: Q99502 Identical to: NP_742055, NP_000494 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 ↕
Swiss-Prot	VAR_016867	Disease	p.ARG440GLN	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_016868	Disease	p.ARG547GLY	Anterior segment anomalies with or without cataract (ASA)
Swiss-Prot	VAR_016866	Disease	p.ASP429GLY	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_016864	Disease	p.GLU363LYS	Anterior segment anomalies with or without cataract (ASA)
Swiss-Prot	VAR_070033	Polymorphism	p.GLU41LYS	N/A
Swiss-Prot	VAR_064944	Disease	p.GLU363VAL	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_064943	Disease	p.GLY140SER	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_016865	Disease	p.GLY426SER	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_005204	Disease	p.LEU505ARG	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_064945	Disease	p.LEU514PRO	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_016869	Disease	p.LEU583PRO	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_064947	Disease	p.MET569THR	Branchiootorenal syndrome 1 (BOR1)
dbSNP	rs1445404	Polymorphism	p.PRO20ALA	N/A
dbSNP	rs77825059	Polymorphism	p.PRO261LEU	N/A
Swiss-Prot	VAR_064942	Disease	p.PRO95SER	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_044452	Disease	p.SER242GLY	Branchiootic syndrome 1 (BOS1)
Swiss-Prot	VAR_005203	Disease	p.SER487PRO	Branchiootorenal syndrome 1 (BOR1)
Swiss-Prot	VAR_064946	Disease	p.TYR527CYS	Branchiootorenal syndrome 1 (BOR1)
OMIM	601653.0007	Disease	p.ARG407GLN	BRANCHIOOTORENAL SYNDROME 1
OMIM	601653.0008	Disease	p.ARG514GLY	ANTERIOR SEGMENT ANOMALIES AND CATARACT
OMIM	601653.0001	Disease	p.ARG275TER	BRANCHIOOTORENAL SYNDROME 1
OMIM	601653.0015	Disease	p.ARG328TER	BRANCHIOOTIC SYNDROME 1\|\|BRANCHIOOTORENAL SYNDROME 1, INCLUDED
OMIM	601653.0009	Disease	p.GLU330LYS	ANTERIOR SEGMENT ANOMALIES
OMIM	601653.0010	Disease	p.GLY393SER	BRANCHIOOTORENAL SYNDROME WITH CATARACT
OMIM	601653.0013	Disease	p.LEU472ARG	BRANCHIOOTORENAL SYNDROME 1
OMIM	601653.0012	Disease	p.SER454PRO	BRANCHIOOTORENAL SYNDROME 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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