ABCC8 p.Arg248Trp
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PMID: 11078762
[PubMed]
Soufir N et al: "Association between INK4a-ARF and p53 mutations in skin carcinomas of xeroderma pigmentosum patients."
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86
p16INK4a , p14ARF , and p53 mutations in 13 xeroderma pigmentosum (XP)-associated skin epithelial tumors* Skin carcinoma Nucleotide p16INK4A complementary DNA position INK4a-ARF sequence change p16INK4Aa aa change p14ARF aa change Previous mutation reference p53 sequence change p53 aa change Tumor site Complementation group Squamous cell carcinoma (SCC) SCC 164 -25 atg agCagg→ agTagg None None - caC Cat→ caT Tat His178His/ His179Tyr Scalp XP-C 24-26 gCATgg→ agTAgg Frameshift None - gaC Cgg→ gaT Tgg Asp281Asp/ Arg282Trp 79 agGagg→ agAagg Glu27Arg None - 341-342 gcCCgt→ gcTTgtg Pro114Leu Ala128 Ala/ Arg129Cys - SCC 586 172 ccCgag→ ccTgag Arg58Ter Pro72Leu Familial melanoma, melanoma tumor and cell lines gtCctg→ gtTctg Pro278Ser Forehead n.d 341 gcCcgtg→ gcTcgtg Pro114Leu Ala128 Ala Melanoma and fibrosarcoma cell lines, astrocytoma gtCCtg→ gtTTtg Pro278Phe SCC 596 171-172 gcGGga→ gcTTga Arg58Ter Pro72Leu Sporadic SCC, melanoma tumor and cell line cgCCat→ cgTTat Ala59Val Neck n.d SCC 188-3 341-342 gcCCgt→ gcTTgt Pro114Leu Ala128 Ala/ Arg129Cys - acCCcc→ acTTcc Pro151Leu Eye XP-C gtCCtg→ gtTTtg Pro278Phe SCC 218-4 237-238 acCCga→ acTTga Arg80Ter Pro94Leu Melanoma cell line aaCCgg→ aaTTgg Asn247Asn/ Arg248Trp Ear XP-C SCC 564 237-238 acCCga→ acTTga Arg80Ter Pro94Leu Melanoma cell line aAcCgg→ aCcTgg Asn247Thr/ Arg248Trp Cheek n.d SCC 594 - wt None None - ccCcgc→ ccTcgc Pro152Ser Cheek n.d SCC 203-10 - wt None None - gaCCgg→ gaTTgg Asp281Asp/ Arg282Trp Ear XP-C Basal cell carcinoma (BCC) BCC 248-6 341-342 gcCCgt→ gcTTgt Pro114Leu Ala128 Ala/ Arg129Cys - wt None unk XP-C BCC 243-10 237-238 acCCga→ acTTga Arg80Ter Pro94Leu Melanoma cell line Sporadic SCC ccCCac→ ccTTac Pro177Pro/ His178Tyr unk XP-C s.a. ggcaGg→ ggcaAg Splicing Splicing Nasopharynx cancer Sporadic SCC acCatg→ acTatg His179Tyr BCC 593 - wt None None - ccCtgt→ ccTtgt Pro142Leu Eyelid XP-C BCC 248-3 - wt None None - ccCCca→ ccATca (d) Pro177His unk n.d acCatg→ acTatg His179Tyr ttCctg→ ttTctg Ser241Phe ccaGGt→ ccaAAt (d) Splicing donor site exon 7 BCC 248-5 - wt None None - caAgat→ caTgat Lys132Met unk n.d gaCCgg→ gaTTgg Asp281Asp/ Arg282Trp *The sequence is written 5Ј→3Ј and shows the nontranscribed strand; the mutated base is shown in uppercase.
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ABCC8 p.Arg248Trp 11078762:86:1332
status: NEWX
ABCC8 p.Arg248Trp 11078762:86:1459
status: NEW
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85
Mutations in samples 79, 121, 132 and 153 are predicted to be UVB induced mutations Table 2 P53 gene mutations characterized in human skin epithelial tumors Tumor size Exon Mutation Codon modi®cation Squamous lesions AK 241 SSC 350 Exon 8 Exon 7 gtcCtgg?gtcTcgg ggcGgc?ggcTgca Pro278Leu gly245Cys Basal cell carcinomas BCC 353 BCC 274 BCC 354 BCC 352 BCC 274 BCC 354 BCC 351 BCC 355 Exon 5 Exon 6 Exon 6 Exon 6 Exon 6 Exon 7 Exon 7 Exon 8 gccCCca?gccTTca tcgAcat?tcgGcat tcgAcat?cgGcat atcCgagt?atcTgagt cctAtga?cctGtga gttCctg?gttTctg aacCgga?aacTgga ctcCgcaa?ctcTcaa Pro177Leu Arg213Arg Arg213Arg Arg196Stop Tyr220Cys Ser241Phe Arg248Trp Arg 290 frameshift* *Indicates mutations which have not previously been described in the IARC p53 database 49 tumors (8/20 SCCs, three of which harbouring a p16 mutation; 7/28 BCC, one having a p16 mutation) (data not shown).
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ABCC8 p.Arg248Trp 10498902:85:635
status: NEW