Results for the protein: Q86SU0

Results for the Protein: Q86SU0

110279019

286676

ILDR1

NCBI, UniProt

ILDR1_HUMAN RecName: Full=Immunoglobulin-like domain-containing receptor 1; Flags: Precursor

Known Diseases associated with this Protein:
DEAFNESS, AUTOSOMAL RECESSIVE 42
DEAFNESS, AUTOSOMAL RECESSIVE, 42 (DFNB42)

3

8

2

6

3

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Default View: LSR - pfam05624	Swiss-Prot Protein: Q86SU0 Identical to: NP_001186728 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065354	Polymorphism	p.ARG463CYS	N/A
dbSNP	rs35906279	Polymorphism	p.ARG433GLN	N/A
Swiss-Prot	VAR_065353	Polymorphism	p.ARG453GLN	N/A
Swiss-Prot	VAR_065352	Disease	p.ARG97GLN	Deafness, autosomal recessive, 42 (DFNB42)
dbSNP	rs34883204	Polymorphism	p.ARG442HIS	N/A
dbSNP	rs34284625	Polymorphism	p.HIS500TYR	N/A
dbSNP	rs16832645	Polymorphism	p.ILE413THR	N/A
dbSNP	rs3915061	Polymorphism	p.PRO264ARG	N/A
dbSNP	rs35661993	Polymorphism	p.TRP388ARG	N/A
OMIM	609739.0003	Disease	p.GLN195TER	DEAFNESS, AUTOSOMAL RECESSIVE 42
OMIM	609739.0001	Disease	p.GLU379TER	DEAFNESS, AUTOSOMAL RECESSIVE 42

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