Results for the protein: Q96PL5

Results for the Protein: Q96PL5

74761033

114625

ERMAP

NCBI, UniProt

ERMAP_HUMAN RecName: Full=Erythroid membrane-associated protein; Short=hERMAP; AltName: Full=Radin blood group antigen; AltName: Full=Scianna blood group antigen; Flags: Precursor

Known Diseases associated with this Protein:
  RADIN BLOOD GROUP ANTIGEN
  SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
  SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN

3

9

3

2

7

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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Default View: IG_like - smart00410 IG - smart00409 V-set - pfam07686 Ig_pIgR - cd05716 Ig_MOG_like - cd05713 IGv - smart00406 Ig - cd00096 PRY - smart00589 SPRY - smart00449 SPRY - pfam00622	Swiss-Prot Protein: Q96PL5 Identical to: NP_061008, NP_001017922 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig_MOG_like	cd05713	2.5e-25	43	144
Ig	cd00096	3.1e-07	46	140
SPRY	pfam00622	4.7e-26	290	414
IG	smart00409	9.9e-10	35	144
IG_like	smart00410	9.9e-10	35	144
V-set	pfam07686	1.8e-08	37	143
IGv	smart00406	8.3e-07	45	128
PRY	smart00589	4.6e-27	237	288
SPRY	smart00449	6.1e-29	290	414

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35757049	Polymorphism	p.ALA4VAL	N/A
Swiss-Prot	VAR_025484	Polymorphism	p.ARG81GLN	N/A
Swiss-Prot	VAR_025487	Polymorphism	p.CYS259ARG	N/A
Swiss-Prot	VAR_025481	Polymorphism	p.GLU47LYS	N/A
Swiss-Prot	VAR_025482	Polymorphism	p.GLY57ARG	N/A
Swiss-Prot	VAR_025488	Polymorphism	p.GLY263GLU	N/A
Swiss-Prot	VAR_025480	Polymorphism	p.GLY35SER	N/A
dbSNP	rs33953680	Polymorphism	p.HIS26TYR	N/A
Swiss-Prot	VAR_025483	Polymorphism	p.PRO60ALA	N/A
OMIM	609017.0004	Disease	p.GLU47LYS	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN
OMIM	609017.0002	Disease	p.GLY57ARG	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
OMIM	609017.0003	Disease	p.PRO60ALA	RADIN BLOOD GROUP ANTIGEN

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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