ABCMdb

PMID: 9479034

Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.
Gene. 1998 Feb 16;208(1):7-15., [PubMed]

Sentences

No. Mutations Sentence Comment

137 ABCD1 p.Leu391Pro Table 2 Amino acid comparison at sites of missense mutations in man, mouse, rat, chicken, Fugu, goldfish, zebrafish and Drosophila Human Mouse Rat Chicken Fugu Goldfish Zebrafish Drosophila Trp9Ser + Leu Leu Leu n.d. n.d. Leu Gly121Ser + + + + + + + Ile179Ser + + + + + + + Arg184Gln + + + + + + Asn Tyr194Cys + + + + + + Lys His194Cys Asn Asn + Asn Asn Asn Ser Pro240Leu + + + + + Ala His Cys264Tyr + + + + + + + Gly268Asp + + + + + + + Glu309Lys + + + + + + Thr Pro333Arg + + + + + + + Gly370Arg + + + + + + + Leu391Pro + + + + + + Ile Ala426Asp + + Leu Pro Pro + Pro Gly452Arg + + + + + + + Asp598Asn + + + + + + + Arg632Pro His His + Thr Thr Thr Glu Val768Phe + + + Thr Ala + Ile Pro941Leu + + Thr + + + + Tyr1070Cys + + Ser Ser Ser Ser Ser Ser1194Leu + + Gly + + + Asn Tyr1229His + + + Phe + + + Amino acids identical with the wild-type human gene are indicated by '+`, alterations in the aa are given as a three-letter aa-code. Login to comment 138 ABCD1 p.His210Gln Five mutations (Trp9Ser, His210Gln, Ala426Asp, and Fugu. Login to comment 142 ABCD1 p.Leu391Pro Table 2 Amino acid comparison at sites of missense mutations in man, mouse, rat, chicken, Fugu, goldfish, zebrafish and Drosophila Human Mouse Rat Chicken Fugu Goldfish Zebrafish Drosophila Trp9Ser + Leu Leu Leu n.d. n.d. Leu Gly121Ser + + + + + + + Ile179Ser + + + + + + + Arg184Gln + + + + + + Asn Tyr194Cys + + + + + + Lys His194Cys Asn Asn + Asn Asn Asn Ser Pro240Leu + + + + + Ala His Cys264Tyr + + + + + + + Gly268Asp + + + + + + + Glu309Lys + + + + + + Thr Pro333Arg + + + + + + + Gly370Arg + + + + + + + Leu391Pro + + + + + + Ile Ala426Asp + + Leu Pro Pro + Pro Gly452Arg + + + + + + + Asp598Asn + + + + + + + Arg632Pro His His + Thr Thr Thr Glu Val768Phe + + + Thr Ala + Ile Pro941Leu + + Thr + + + + Tyr1070Cys + + Ser Ser Ser Ser Ser Ser1194Leu + + Gly + + + Asn Tyr1229His + + + Phe + + + Amino acids identical with the wild-type human gene are indicated by '+`, alterations in the aa are given as a three-letter aa-code. Login to comment 143 ABCD1 p.His210Gln Five mutations (Trp9Ser, His210Gln, Ala426Asp, and Fugu. Login to comment