Biology Reference
In-Depth Information
991C>T
Arg331Stop
C-tail (start)
Compound
heterozygous
Unknown
1 male
Impaired G protein
signaling (inositol
phosphate
production);
↓
[
9
,
54
]
expression
1195T>A
Stop399Arg
C-tail (end)
Compound
heterozygous
Unknown
1 male
Decreased G protein
signaling (inositol
phosphate
production);
↓
[
9
]
expression
667T>C
Cys223Arg
TM-5 (end)
Compound
heterozygous
Unknown
1 male
Impaired signaling
(Ca
2+
mobilization)
[
13
]
891G>T
Arg297Leu
ECL-3 (middle)
Compound
heterozygous
Familial
1 male
Slightly impaired
signaling (Ca
2+
mobilization)
[
13
]
1101-1102_insC
Frameshift
C-tail(middle)
Autosomal recessive
Sporadic
1 male
Not tested
[
10
]
ICPP
1157G>C
Arg386Pro
(conserved)
C-tail (middle)
Autosomal dominant
Unknown
1 female
Prolonged G protein
signaling
(inositol phos-
phate + pERK);
↓
[
6
]
degradation
of KISS1R
369C>T
Pro74Ser-KISS1
(highly
conserved)
PEST site
(predicted)
Autosomal dominant
Sporadic
1 male
↑
G protein signaling
(inositol phos-
phate);
[
17
]
degrada-
tion of kisspeptin
↓
ICL
intracellular loop;
ECL
extracellular loop;
TM
transmembrane domain;
C-tail
carboxyl terminal tail;
pERK
phosphorylated ERK (extracellular-regulated
kinase)
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