ABCG5 p.Met622Val

ClinVar: c.1864A>G , p.Met622Val ? , Uncertain significance
Predicted by SNAP2: A: D (63%), C: D (71%), D: D (91%), E: D (85%), F: D (63%), G: D (80%), H: D (80%), I: D (59%), K: D (80%), L: D (53%), N: D (85%), P: D (85%), Q: D (80%), R: D (75%), S: D (71%), T: D (66%), V: N (53%), W: D (85%), Y: D (63%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: D, H: N, I: N, K: N, L: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Hubacek JA, Berge KE, Cohen JC, Hobbs HH
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hum Mutat. 2001 Oct;18(4):359-60., [PMID:11668628]

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[hide] Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris M, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
Br J Haematol. 2005 Jul;130(2):297-309., [PMID:16029460]

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