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The mutation corresponds to a T-to-C transition at nucleotide position 635 (Genbank: NM_053077), in the second of 7 exons, resulting in replacement of leucine at amino acid positon 180 by proline (L180P), in the cytosolic loop between the fourth and fifth transmembrane domains. (J:133630)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
