Results for the protein: Q8IU80

Results for the Protein: Q8IU80

209572718

164656

TMPRSS6

NCBI, UniProt

TMPS6_HUMAN RecName: Full=Transmembrane protease serine 6; AltName: Full=Matriptase-2

Known Diseases associated with this Protein:
IRON-REFRACTORY IRON DEFICIENCY ANEMIA
IRON-REFRACTORY IRON DEFICIENCY ANEMIA (IRIDA)

22

13

7

5

23

Tips:

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

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Default View: SEA - pfam01390 LDLa - smart00192 LDLa - cd00112 Ldl_recept_a - pfam00057 Tryp_SPc - smart00020 Trypsin - pfam00089 Tryp_SPc - cd00190	Swiss-Prot Protein: Q8IU80 Identical to: NP_705837 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LDLa	cd00112	2.1e-11	491	525
LDLa	cd00112	5.4e-09	531	566
Tryp_SPc	cd00190	1e-111	577	809
SEA	pfam01390	1.8e-11	83	186
Ldl_recept_a	pfam00057	1.2e-09	490	525
Ldl_recept_a	pfam00057	1.2e-09	529	566
Trypsin	pfam00089	1.1e-85	577	806
LDLa	smart00192	4.7e-05	457	486
LDLa	smart00192	3.8e-12	490	522
LDLa	smart00192	1.3e-06	530	563
Tryp_SPc	smart00020	2.3e-103	576	806

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068666	Disease	p.ALA118ASP	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_044437	Disease	p.ARG774CYS	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_064077	Disease	p.ARG271GLN	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_036296	Polymorphism	p.ARG223HIS	N/A
dbSNP	rs61747970	Polymorphism	p.ARG685HIS	N/A
Swiss-Prot	VAR_036297	Polymorphism	p.ARG234SER	N/A
Swiss-Prot	VAR_068670	Polymorphism	p.ARG446TRP	N/A
Swiss-Prot	VAR_044436	Disease	p.ASP521ASN	Iron-refractory iron deficiency anemia (IRIDA)
dbSNP	rs76970337	Polymorphism	p.ASP552ASN	N/A
Swiss-Prot	VAR_064079	Disease	p.CYS510SER	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_068665	Disease	p.GLU114LYS	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_044434	Polymorphism	p.GLU262LYS	N/A
Swiss-Prot	VAR_068671	Disease	p.GLU522LYS	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_044435	Disease	p.GLY442ARG	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_068672	Disease	p.GLY603ARG	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_068667	Polymorphism	p.GLY228ASP	N/A
Swiss-Prot	VAR_051844	Polymorphism	p.GLY763ASP	N/A
Swiss-Prot	VAR_064076	Disease	p.ILE212THR	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_068673	Polymorphism	p.LEU674PHE	N/A
Swiss-Prot	VAR_068668	Disease	p.LEU235PRO	Iron-refractory iron deficiency anemia (IRIDA)
dbSNP	rs2235324	Polymorphism	p.LYS253GLU	N/A
Swiss-Prot	VAR_068674	Disease	p.PRO765ALA	Iron-refractory iron deficiency anemia (IRIDA)
dbSNP	rs5995378	Polymorphism	p.SER288LEU	N/A
Swiss-Prot	VAR_064078	Disease	p.SER304LEU	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_064075	Disease	p.TYR141CYS	Iron-refractory iron deficiency anemia (IRIDA)
Swiss-Prot	VAR_068669	Disease	p.TYR418CYS	Iron-refractory iron deficiency anemia (IRIDA)
dbSNP	rs855791	Polymorphism	p.VAL736ALA	N/A
Swiss-Prot	VAR_068675	Polymorphism	p.VAL795ILE	N/A
OMIM	609862.0012	Disease	p.ALA118ASP	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0010	Disease	p.ARG599TER	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0006	Disease	p.ASP521ASN	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0013	Disease	p.GLU522LYS	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0005	Disease	p.GLY442ARG	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0007	Disease	p.TYR355TER	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM	609862.0009	Disease	p.TYR393TER	IRON-REFRACTORY IRON DEFICIENCY ANEMIA

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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