PMID: 15026428

Selva DM, Hirsch-Reinshagen V, Burgess B, Zhou S, Chan J, McIsaac S, Hayden MR, Hammond GL, Vogl AW, Wellington CL
The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.
J Lipid Res. 2004 Jun;45(6):1040-50. Epub 2004 Mar 16., [PubMed]
Sentences
No. Mutations Sentence Comment
231 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 15026428:231:165
status: NEW
view ABCA1 p.Cys1477Arg details
ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 15026428:231:307
status: NEW
view ABCA1 p.Asn935Ser details
ABCA1 p.Arg1680Trp
X
ABCA1 p.Arg1680Trp 15026428:231:400
status: NEW
view ABCA1 p.Arg1680Trp details
 Children of TD fathers TD Patient Mutation Father`s Age Number of Children Youngest Child`s Age Father-Child Age Difference Reference years years years TD1 (III:01) C1477R, splice 43 1 6 36 (17) TD1 (II:5) G1764del-635X 63 2 21 42 (16) TD2 (II:4) 3Ј del-1834X 52 2 Ͻ14 Ͼ38 (16) TD3 (II.4) N935S 66 3 28 38 (16) TD5 (III:4) A877V, W530S 52 1 31 21 (59) II-2 1,284X 62 4 21 41 (60) P R1680W 48 3 5 43 (61) TD, Tangier disease. Login to comment 232 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 15026428:232:165
status: NEW
view ABCA1 p.Cys1477Arg details
ABCA1 p.Asn935Ser
X
ABCA1 p.Asn935Ser 15026428:232:289
status: NEW
view ABCA1 p.Asn935Ser details
ABCA1 p.Arg1680Trp
X
ABCA1 p.Arg1680Trp 15026428:232:382
status: NEW
view ABCA1 p.Arg1680Trp details
 Children of TD fathers TD Patient Mutation Father`s Age Number of Children Youngest Child`s Age Father-Child Age Difference Reference years years years TD1 (III:01) C1477R, splice 43 1 6 36 (17) TD1 (II:5) G1764del-635X 63 2 21 42 (16) TD2 (II:4) 3 del-1834X 52 2 14 38 (16) TD3 (II.4) N935S 66 3 28 38 (16) TD5 (III:4) A877V, W530S 52 1 31 21 (59) II-2 1,284X 62 4 21 41 (60) P R1680W 48 3 5 43 (61) TD, Tangier disease. Login to comment