Results for the protein: Q14678

Results for the Protein: Q14678

73920184

23189

KANK1

NCBI, UniProt

KANK1_HUMAN RecName: Full=KN motif and ankyrin repeat domain-containing protein 1; AltName: Full=Ankyrin repeat domain-containing protein 15; AltName: Full=Kidney ankyrin repeat-containing protein

			0 11 0 8 3

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Default View: KN_motif - pfam12075 Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248	Swiss-Prot Protein: Q14678 Identical to: NP_055973 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	1.9e-39	1156	1287
Ank	pfam00023	1.7e-06	1161	1191
Ank	pfam00023	6.7e-10	1233	1265
Ank	pfam00023	2.6e-06	1266	1299
KN_motif	pfam12075	7.9e-23	30	68
ANK	smart00248	2.3e-06	1161	1191
ANK	smart00248	1.1e-06	1233	1262

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3824421	Polymorphism	p.ALA664VAL	N/A
dbSNP	rs7860464	Polymorphism	p.ARG67GLN	N/A
dbSNP	rs3824420	Polymorphism	p.ARG667HIS	N/A
Swiss-Prot	VAR_026212	Polymorphism	p.ASN206LYS	N/A
dbSNP	rs12352313	Polymorphism	p.ASN901SER	N/A
dbSNP	rs4465020	Polymorphism	p.GLU432GLN	N/A
dbSNP	rs28374506	Polymorphism	p.HIS210GLN	N/A
Swiss-Prot	VAR_048303	Polymorphism	p.ILE1055THR	N/A
Swiss-Prot	VAR_048299	Polymorphism	p.LYS321ARG	N/A
dbSNP	rs912174	Polymorphism	p.SER464ALA	N/A
dbSNP	rs75034673	Polymorphism	p.SER198PHE	N/A

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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