Gene Product Sequence Variation

cDNA encoding the chicken ortholog of the mouse dilute gene product Sequence comparison reveals a myosin I subfamily with conserved C-terminal domains

FEBS Letters ◽

10.1016/0014-5793(92)81123-4 ◽

1992 ◽

Vol 311 (3) ◽

pp. 295-298 ◽

Cited By ~ 11

Author(s):

Gabriele Sanders ◽

Beate Lichte ◽

Helmut E. Meyer ◽

Manfred W. Kilimann

Keyword(s):

Gene Product ◽

Sequence Comparison ◽

Myosin I ◽

Product Sequence ◽

Terminal Domains

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Sequence variation in theSRC gene product affects metastasis formation: The central, but not exclusive, role of the tumor immune response

International Journal of Cancer ◽

10.1002/(sici)1097-0215(19961009)68:2<228::aid-ijc15>3.0.co;2-6 ◽

1996 ◽

Vol 68 (2) ◽

pp. 228-231 ◽

Cited By ~ 2

Author(s):

Robert L. Taylor ◽

James M. England ◽

Gene C. Kopen ◽

Alexander A. Christou ◽

Michael S. Halpern

Keyword(s):

Immune Response ◽

Gene Product ◽

Sequence Variation ◽

Metastasis Formation

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Accumulation of the p53 tumor-suppressor gene product in oral leukoplakia

Otolaryngology ◽

10.1016/s0194-5998(94)70564-x ◽

1994 ◽

Vol 111 (6) ◽

pp. 758-763 ◽

Cited By ~ 9

Author(s):

M WOOD ◽

J MEDINA ◽

G THOMPSON ◽

J HOUCK ◽

K MIN

Keyword(s):

Tumor Suppressor ◽

Tumor Suppressor Gene ◽

Gene Product ◽

Suppressor Gene ◽

Oral Leukoplakia ◽

P53 Tumor Suppressor ◽

P53 Tumor Suppressor Gene ◽

Tumor Suppressor Gene Product

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Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy

Klinische Neurophysiologie ◽

10.1055/s-0029-1216187 ◽

2009 ◽

Vol 40 (01) ◽

Author(s):

J Schessl ◽

Y Zou ◽

MJ McGrath ◽

BS Cowling ◽

B Maiti ◽

...

Keyword(s):

Gene Product ◽

Lim Domain ◽

Lim Domain Protein ◽

Proteomic Identification ◽

Domain Protein

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Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

Thrombosis and Haemostasis ◽

10.1055/s-0038-1648812 ◽

1994 ◽

Vol 72 (01) ◽

pp. 065-069 ◽

Cited By ~ 2

Author(s):

J M Soria ◽

D Brito ◽

J Barceló ◽

J Fontcuberta ◽

L Botero ◽

...

Keyword(s):

Missense Mutation ◽

Gene Product ◽

Splice Site ◽

Protein C ◽

Purpura Fulminans ◽

Single Strand Conformation Polymorphism ◽

Donor Splice Site ◽

Protein C Deficiency ◽

Donor Splice ◽

Newborn Child

SummarySingle strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

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