PMID: 11310970

Dworakowska B, Dolowy K
Ion channels-related diseases.
Acta Biochim Pol. 2000;47(3):685-703., [PubMed]
Sentences
No. Mutations Sentence Comment
311 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11310970:311:58
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 11310970:311:80
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 11310970:311:94
status: NEW
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ABCC7 p.Glu193Lys
X
ABCC7 p.Glu193Lys 11310970:311:69
status: NEW
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 Milder forms of the disease result from such mutations as Arg117His, Glu193Lys, Arg334Trp and Arg347Pro which produce channels that are less likely to open or have reduced amplitude (Sheppard et al., 1993; Seibert et al., 1997). Login to comment 384 ABCC7 p.Val1293Ile
X
ABCC7 p.Val1293Ile 11310970:384:169
status: NEW
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 Green, D.S., George, A.L., Jr. & Cannon, S.C. (1998) Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I. Login to comment