rs104894094
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894097
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
rs1064794292
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs36204594
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds.
|
8570179 |
1995 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This mutation, Arg24Pro, has previously been identified in a melanoma kindred.
|
9334810 |
1997 |
rs771138120
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma.
|
9416844 |
1997 |
rs771138120
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The recent discovery of a common missense mutation (Arg24Cys) in both sporadic and familial forms of malignant melanoma strongly supports the candidacy of CDK4 as a proto-oncogene.
|
9311594 |
1997 |
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In binding assays the protein expressed from the previously described mutation, Met53Ile, did not bind to CDK4/CDK6, confirming its role as a causal mutation in the development of melanoma.
|
9328469 |
1997 |
rs1554653960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified two novel CDKN2 mutations (88delG and Ala118Thr) which are likely to be associated with the development of melanoma, because of their co-segregation with the disease and their likely functional effect on the CDKN2 protein.
|
9328469 |
1997 |
rs34886500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nucleotide-sequence analysis identified a single point mutation leading to a substitution of leucine for proline in codon 48 of exon 1 in a family with a history of melanoma and several other cancers.
|
9168184 |
1997 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families.
|
9699728 |
1998 |
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site.
|
9699728 |
1998 |
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs559848002
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs759763964
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs878853647
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs11552823
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.
|
10389768 |
1999 |
rs104894094
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation.
|
10951521 |
2000 |
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Among a group of 49 patients, we detected 1 (2%; 95% confidence interval, 0.07%-10.8%) Met 53 Ile CDKN2A mutation, which was found in a patient with a strong family history of melanoma.
|
10987867 |
2000 |
rs104894097
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
rs771138120
|
|
|
0.070 |
GeneticVariation |
BEFREE |
As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1.
|
11479422 |
2001 |
rs104894095
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |
rs104894098
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The cellular activities of four melanoma-associated p16(INK4a) mutations (Arg24Pro, Ala36Pro, Met53Ile, and Val126Asp) were compared by use of inducible expression in stably transfected melanoma cells, deficient in expression of the endogenous protein, and compared with their ability to bind CDK4.
|
11595726 |
2001 |