Results for the protein: Q86SJ6

Results for the Protein: Q86SJ6

60389774

147409

DSG4

NCBI, UniProt

DSG4_HUMAN RecName: Full=Desmoglein-4; AltName: Full=Cadherin family member 13; Flags: Precursor

Known Diseases associated with this Protein:
HYPOTRICHOSIS 6

3

5

3

4

1

Tips:

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Default View: CA_like - cd00031 Cadherin - pfam00028 CA - smart00112	Swiss-Prot Protein: Q86SJ6 Identical to: NP_817123 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	2.4e-28	273	489
Cadherin	pfam00028	3.3e-14	54	148
Cadherin	pfam00028	1.6e-24	162	260
Cadherin	pfam00028	6.9e-23	274	377
Cadherin	pfam00028	6e-05	390	488
CA	smart00112	3.3e-16	73	155
CA	smart00112	2.1e-19	182	267
CA	smart00112	2e-09	293	384
CA	smart00112	8.9e-11	414	495

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_048514	Polymorphism	p.ALA154THR	N/A
dbSNP	rs4799570	Polymorphism	p.ILE644LEU	N/A
dbSNP	rs7229252	Polymorphism	p.ILE535THR	N/A
dbSNP	rs60800275	Polymorphism	p.MET1023ILE	N/A
dbSNP	rs61734847	Polymorphism	p.THR765ALA	N/A
OMIM	607892.0008	Disease	p.ARG289TER	HYPOTRICHOSIS 6
OMIM	607892.0006	Disease	p.PRO267ARG	HYPOTRICHOSIS 6
OMIM	607892.0003	Disease	p.SER192PRO	HYPOTRICHOSIS 6

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