Results for the protein: Q9Y5I7

Results for the Protein: Q9Y5I7

6685318

10686

CLDN16

NCBI, UniProt

CLD16_HUMAN RecName: Full=Claudin-16; AltName: Full=Paracellin-1; Short=PCLN-1

Known Diseases associated with this Protein:
  HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
  HYPOMAGNESEMIA 3 (HOMG3)
  HYPOMAGNESEMIA 3, RENAL
  HYPOMAGNESEMIA, 3, RENAL

35

1

17

1

18

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Default View:	Swiss-Prot Protein: Q9Y5I7 Identical to: NP_006571 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs76555381	Polymorphism	p.ALA56PRO	N/A
Swiss-Prot	VAR_017235	Disease	p.ALA209THR	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017230	Disease	p.ARG149LEU	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017236	Disease	p.ARG216THR	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017234	Disease	p.GLY198ALA	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008175	Disease	p.GLY191ARG	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008172	Disease	p.GLY239ARG	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008176	Disease	p.GLY198ASP	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008178	Disease	p.GLY233ASP	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017228	Disease	p.HIS141ASP	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017231	Disease	p.LEU151PHE	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017229	Disease	p.LEU145PRO	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017232	Disease	p.LEU151PRO	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008174	Disease	p.LEU167PRO	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017233	Disease	p.LEU151TRP	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008173	Disease	p.MET71ARG	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008177	Disease	p.PHE232CYS	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_008179	Disease	p.SER235PHE	Hypomagnesemia 3 (HOMG3)
Swiss-Prot	VAR_017237	Disease	p.SER235PRO	Hypomagnesemia 3 (HOMG3)
OMIM	603959.0001	Disease	p.ARG149TER	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0003	Disease	p.GLY191ARG	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0002	Disease	p.GLY239ARG	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0004	Disease	p.GLY198ASP	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0008	Disease	p.GLY233ASP	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0010	Disease	p.LEU151PHE	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0012	Disease	p.LEU145PRO	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0014	Disease	p.LEU151PRO	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0006	Disease	p.LEU167PRO	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0011	Disease	p.LEU151TRP	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0017	Disease	p.LYS275TER	HYPOMAGNESEMIA, 3, RENAL
OMIM	603959.0005	Disease	p.MET71ARG	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0007	Disease	p.PHE232CYS	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0009	Disease	p.SER235PHE	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0015	Disease	p.THR303ARG	HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
OMIM	603959.0013	Disease	p.TRP117TER	HYPOMAGNESEMIA 3, RENAL
OMIM	603959.0016	Disease	p.TYR277TER	HYPOMAGNESEMIA 3, RENAL

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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