Results for the protein: Q14574

Results for the Protein: Q14574

116241342

1825

DSC3

NCBI, UniProt

DSC3_HUMAN RecName: Full=Desmocollin-3; AltName: Full=Cadherin family member 3; AltName: Full=Desmocollin-4; AltName: Full=HT-CP; Flags: Precursor

Known Diseases associated with this Protein:
HYPOTRICHOSIS AND RECURRENT SKIN VESICLES

1

6

1

4

2

Tips:

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Default View: Cadherin_pro - pfam08758 Cadherin - pfam00028 CA - smart00112 CA_like - cd00031 Cadherin_C - pfam01049	Swiss-Prot Protein: Q14574 Identical to: NP_001932 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	9.5e-27	475	670
Cadherin	pfam00028	2.7e-17	140	234
Cadherin	pfam00028	1.6e-25	248	346
Cadherin	pfam00028	5.1e-17	360	463
Cadherin	pfam00028	2.4e-15	476	568
Cadherin_C	pfam01049	6.4e-23	772	896
Cadherin_pro	pfam08758	1.9e-28	31	113
CA	smart00112	1.6e-12	159	241
CA	smart00112	4.2e-22	268	353
CA	smart00112	6.7e-10	379	470
CA	smart00112	2.9e-16	496	575

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2852003	Polymorphism	p.ALA28ASP	N/A
dbSNP	rs276938	Polymorphism	p.ARG102LYS	N/A
Swiss-Prot	VAR_048519	Polymorphism	p.ARG199TRP	N/A
Swiss-Prot	VAR_048520	Polymorphism	p.ASN239SER	N/A
dbSNP	rs35296997	Polymorphism	p.LYS180GLN	N/A
dbSNP	rs276937	Polymorphism	p.SER78THR	N/A
OMIM	600271.0001	Disease	p.LEU710TER	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES

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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