[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1689726 [NCBI, ExPASy, EBI, Israel, Japan]
Sahr K.E.,
Laurila P.,
Kotula L.,
Scarpa A.L.,
Coupal E.,
Leto T.L.,
Linnenbach A.J.,
Winkelmann J.C.,
Speicher D.W.,
Marchesi V.T.,
Curtis P.J.,
Forget B.G.;
"The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin.";
J. Biol. Chem. 265:4434-4443(1990).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 7-533, AND VARIANTS EL2 PRO-260; PRO-261 AND PRO-471.
PubMed=2794061 [NCBI, ExPASy, EBI, Israel, Japan]
Sahr K.E.,
Tobe T.,
Scarpa A.,
Laughinghouse K.,
Marchesi S.L.,
Agre P.,
Linnenbach A.J.,
Marchesi V.T.,
Forget B.G.;
"Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.";
J. Clin. Invest. 84:1243-1252(1989).
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[3]
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PROTEIN SEQUENCE OF 7-601.
PubMed=6654896 [NCBI, ExPASy, EBI, Israel, Japan]
Speicher D.W.,
Davis G.,
Marchesi V.T.;
"Structure of human erythrocyte spectrin. II. The sequence of the alpha-I domain.";
J. Biol. Chem. 258:14938-14947(1983).
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[4]
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PROTEIN SEQUENCE OF 7-125.
PubMed=6654895 [NCBI, ExPASy, EBI, Israel, Japan]
Speicher D.W.,
Davis G.,
Yurchenco P.D.,
Marchesi V.T.;
"Structure of human erythrocyte spectrin. I. Isolation of the alpha-I domain and its cyanogen bromide peptides.";
J. Biol. Chem. 258:14931-14937(1983).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 320-450.
PubMed=3458204 [NCBI, ExPASy, EBI, Israel, Japan]
Linnenbach A.J.,
Speicher D.W.,
Marchesi V.T.,
Forget B.G.;
"Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment.";
Proc. Natl. Acad. Sci. U.S.A. 83:2397-2401(1986).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1451-1687.
DOI=10.1016/0378-1119(85)90191-X; PubMed=3000887 [NCBI, ExPASy, EBI, Israel, Japan]
Curtis P.J.,
Palumbo A.,
Ming J.,
Fraser P.J.,
Cioe L.,
Meo P.,
Shane S.,
Rovera G.;
"Sequence comparison of human and murine erythrocyte alpha-spectrin cDNA.";
Gene 36:357-362(1985).
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[7]
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PARTIAL PROTEIN SEQUENCE.
DOI=10.1038/311177a0; PubMed=6472478 [NCBI, ExPASy, EBI, Israel, Japan]
Speicher D.W.,
Marchesi V.T.;
"Erythrocyte spectrin is comprised of many homologous triple helical segments.";
Nature 311:177-180(1984).
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[8]
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PROTEIN SEQUENCE OF 7-16; 46-55; 680-689; 1047-1056 AND 1921-1930.
PubMed=1634521 [NCBI, ExPASy, EBI, Israel, Japan]
Speicher D.W.,
Weglarz L.,
DeSilva T.M.;
"Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site.";
J. Biol. Chem. 267:14775-14782(1992).
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 19-28; 39-44 AND 50-59.
PubMed=7929303 [NCBI, ExPASy, EBI, Israel, Japan]
Lusitani D.M.,
Qtaishat N.,
LaBrake C.C.,
Yu R.N.,
Davis J.,
Kelley M.R.,
Fung L.W.-M.;
"The first human alpha-spectrin structural domain begins with serine.";
J. Biol. Chem. 269:25955-25958(1994).
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[10]
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IDENTIFICATION OF PROBABLE FRAMESHIFT IN 2407-2418.
Gibson T.J.;
Unpublished observations (MAR-1995).
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[11]
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STRUCTURE BY NMR OF 1-156, AND SUBUNIT.
DOI=10.1074/jbc.M300617200; PubMed=12672815 [NCBI, ExPASy, EBI, Israel, Japan]
Park S.,
Caffrey M.S.,
Johnson M.E.,
Fung L.W.-M.;
"Solution structural studies on human erythrocyte alpha-spectrin tetramerization site.";
J. Biol. Chem. 278:21837-21844(2003).
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[12]
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REVIEW ON VARIANTS.
DOI=10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.3.CO;2-W; PubMed=8844207 [NCBI, ExPASy, EBI, Israel, Japan]
Maillet P.,
Alloisio N.,
Morle L.,
Delaunay J.;
"Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.";
Hum. Mutat. 8:97-107(1996).
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[13]
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VARIANT EL2 SER-24.
PubMed=8018926 [NCBI, ExPASy, EBI, Israel, Japan]
Parquet N.,
Devaux I.,
Boulanger L.,
Galand C.,
Boivin P.,
Lecomte M.-C.,
Dhermy D.,
Garbarz M.;
"Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.";
Blood 84:303-308(1994).
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[14]
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VARIANTS EL2 CYS-28; HIS-28; LEU-28 AND SER-28.
PubMed=1679439 [NCBI, ExPASy, EBI, Israel, Japan]
Coetzer T.L.,
Sahr K.,
Prchal J.,
Blacklock H.,
Peterson L.,
Koler R.,
Doyle J.,
Manaster J.,
Palek J.;
"Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.";
J. Clin. Invest. 88:743-749(1991).
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[15]
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VARIANT EL2 SER-28, AND VARIANT HPP ARG-48.
PubMed=1878597 [NCBI, ExPASy, EBI, Israel, Japan]
Floyd P.B.,
Gallagher P.G.,
Valentino L.A.,
Davis M.,
Marchesi S.L.,
Forget B.G.;
"Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.";
Blood 78:1364-1372(1991).
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[16]
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VARIANT EL2 SER-45.
PubMed=2568862 [NCBI, ExPASy, EBI, Israel, Japan]
Lecomte M.-C.,
Garbarz M.,
Grandchamp B.,
Feo C.,
Gautero H.,
Devaux I.,
Bournier O.,
Galand C.,
D'Auriol L.,
Galibert F.,
Sahr K.E.,
Forget B.G.,
Boivin P.,
Dhermy D.;
"Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes.";
Blood 74:1126-1133(1989).
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[17]
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VARIANT EL2/HPP PRO-207.
PubMed=1541680 [NCBI, ExPASy, EBI, Israel, Japan]
Gallagher P.G.,
Tse W.T.,
Coetzer T.,
Lecomte M.-C.,
Garbarz M.,
Zarkowsky H.S.,
Baruchel A.,
Ballas S.K.,
Dhermy D.,
Palek J.,
Forget B.G.;
"A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.";
J. Clin. Invest. 89:892-898(1992).
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[18]
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VARIANT VAL-1857.
PubMed=8486776 [NCBI, ExPASy, EBI, Israel, Japan]
Wilmotte R.,
Marechal J.,
Morle L.,
Baklouti F.,
Philippe N.,
Kastally R.,
Kotula L.,
Delaunay J.,
Alloisio N.;
"Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.";
J. Clin. Invest. 91:2091-2096(1993).
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[19]
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VARIANT EL2 BARCELONA PRO-469.
PubMed=8364215 [NCBI, ExPASy, EBI, Israel, Japan]
dalla Venezia N.,
Alloisio N.,
Forissier A.,
Denoroy L.,
Aymerich M.,
Vives-Corrons J.L.,
Besalduch J.,
Besson I.,
Delaunay J.;
"Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).";
Blood 82:1661-1665(1993).
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[20]
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VARIANT CAGLIARI GLY-2024.
PubMed=8226774 [NCBI, ExPASy, EBI, Israel, Japan]
Sahr K.E.,
Coetzer T.L.,
Moy L.S.,
Derick L.H.,
Chishti A.H.,
Jarolim P.,
Lorenzo F.,
del Giudice E.M.,
Iolascon A.,
Gallanello R.,
Cao A.,
Delaunay J.,
Liu S.-C.,
Palek J.;
"Spectrin Cagliari: an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.";
J. Biol. Chem. 268:22656-22662(1993).
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[21]
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VARIANT EL2 CULOZ VAL-46, AND VARIANT EL2 LYON PHE-49.
PubMed=2384601 [NCBI, ExPASy, EBI, Israel, Japan]
Morle L.,
Roux A.-F.,
Alloisio N.,
Pothier B.,
Starck J.,
Denoroy J.,
Morle F.,
Rudigoz R.-C.,
Forget B.G.,
Delaunay J.,
Godet J.;
"Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT-->GTT; alpha I 40 Gly-->Val) and spectrin Lyon (CTT-->TTT; alpha I 43 Leu-->Phe).";
J. Clin. Invest. 86:548-554(1990).
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[22]
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VARIANT EL2 JENDOUBA GLU-791.
PubMed=1638030 [NCBI, ExPASy, EBI, Israel, Japan]
Alloisio N.,
Wilmotte R.,
Morle L.,
Baklouti F.,
Marechal J.,
Ducluzeau M.-T.,
Denoroy L.,
Feo C.,
Forget B.G.,
Kastally R.,
Delaunay J.;
"Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.";
Blood 80:809-815(1992).
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[23]
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VARIANT EL2 TUNIS TRP-41.
PubMed=2568861 [NCBI, ExPASy, EBI, Israel, Japan]
Morle L.,
Morle F.,
Roux A.-F.,
Godet J.,
Forget B.G.,
Denoroy L.,
Garbarz M.,
Dhermy D.,
Kastally R.,
Delaunay J.;
"Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG-->TGG codon change (Arg-->Trp) at position 35 of the alpha I domain.";
Blood 74:828-832(1989).
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[24]
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VARIANT EL2 GENOVA TRP-34.
PubMed=8193371 [NCBI, ExPASy, EBI, Israel, Japan]
Perrotta S.,
del Giudice E.M.,
Alloisio N.,
Sciarratta G.,
Pinto L.,
Delaunay J.,
Cutillo S.,
Lolascon A.;
"Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).";
Blood 83:3346-3349(1994).
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[25]
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VARIANT EL2 ANASTASIA THR-45.
PubMed=7772539 [NCBI, ExPASy, EBI, Israel, Japan]
Perrotta S.,
Iolascon A.,
de Angelis F.,
Pagano L.,
Colonna G.,
Cutillo S.,
del Giudice E.M.;
"Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.";
Br. J. Haematol. 89:933-936(1995).
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