ABCMdb

ABCD1 p.Arg660Gln

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Publications

PMID: 21889498 [PubMed] Shukla P et al: "Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

68 Six reported mutations, c.1202 GNA (p.Arg401Gln), c.1679 CNT (p.Pro560Leu), c.1816 TNC (p.Ser606Pro), 1547 TNC (p. Leu516Pro), c.1780+2 TNG (p.Gly593fs), c.1979 GNA (p.Arg660Gln) were found in eight patients (Fig. 1a, b, c and d). Login to comment
69 All mutations were unique except two, c.1679 CNT (p.Pro560Leu) and c.1979 GNA (p. Arg660Gln) which were found in two unrelated families. Login to comment
73 Data analysis Results of data analysis done by PolyPhen tool for the missense mutations found in X-ALD patients showed all missense changes, c.1202 GNA (p.Arg401Gln), c.1679 CNT (p.Pro560Leu), c.1816 TNC (p.Ser606Pro), c.1547 TNC (p.Leu516Pro) c.1979 GNA (p.Arg660Gln) as probably damaging (Table 3). Login to comment
110 The mutation, c.1979 GNA (p.Arg660Gln) was found in exon 9 in two patients (A16 and A18), along with two other synonymous changes, p.Ala650Ala, and p.Ser633Ser in both patients. Login to comment
124 CCER No A5b 34 39 Neuroregression, behavior problem, speech problem, abnormal gait, urinary incontinence AMN c.1679 CNT (p.Pro560Leu) in exon7/c.420 CNA (p.Ile140Ile) (unreported) in exon 1 A6 13 15 Hyperactivity, slurred speech, spastic gait, deterioration of vision AMN No A7b 22 26 Neuroregression, deterioration of vision, cognitive decline, aggressive behavior, spastic gait, urinary incontinence Adult Cerebral c.1938_1939dupGG (p.Ala647fs) in exon 9 A8 4 4.5 Deterioration of vision and hearing, delayed micturition CCER No A9 6 6 Neuroregression, deterioration of vision and hearing, behavior problem, slurred speech, abnormal gait CCER c.1816 TNC (p.Ser606Pro) in exon 8 2.499 Probably damaging A10b 8 8 Neroregression, deterioration of vision, cognitive decline, speech problem, spastic gait CCER c.1394-2ANG in intron 4 A11 15 22 Neuroregression, seizures, deterioration of vision, cognitive decline, speech problem, spastic gait Adolescent c.67_83del17 (p.Ala23fs) in exon 1 A12b 20 21 Neuroregression, speech problem, abnormal gait, urinary incontinence AMN c.1547 TNC (p.Leu516Pro) in exon 6 2.482 Probably damaging A13 45.5 46 Neuroregression, spastic paraparesis, deterioration of vision and hearing, memory decine, behavior problem, cognitive decline, impotence, urinary incontinence Adult cerebral c.1780+2 TNG in exon 7 A14 11 11 Neuroregression, deterioration of hearing, deterioration of school performance, behavior problem, gait abnormaility Adolescent No A15 9 12 Loss of vision and hearing, low volume speech CCER c.395 GNA (p.Trp132X) in exon 1 A16 1 14 Neuroregression, seizures, deterioration of school performance, behavioral problem CCER c.1979 GNA (p.Arg660Gln) in exon 9/p.Ala650Ala, p. Ser633Ser in exon 9 2.409 Probably damaging A17b 0.3 9 Seizures, weakness of right limbs, speech problem, abnormal gait CCER No A18 0.9 15 Neuroregression, deterioration of vision and hearing, behavioral problem, cognitive decline, speech problem, abnormal gait CCER c.1979 GNA (p.Arg660Gln) in exon 9/p.Ala650Ala, p. Ser633Ser in exon 9 2.409 Probably damaging A19 0.6 14 Loss of vision and hearing, speech problem CCER No/p.Ser633Ser in exon 9 A20 12 14 Spastic quadriparaparesis, mild cognitive decline, delayed puberty AMN No CCER: Childhood Cerebral. Login to comment
142 Most of the mutations found in our study were unique to the kindreds except two missense mutations, c.1679 CNT (p.Pro560Leu) in exon 7 (found A3 and A5) and c.1979 GNA (p.Arg660Gln) in exon 9 (found in A16 and A18) of the ABCD1 gene. Login to comment
166 This phenotype was found in patients with splice site mutation, insertion and nonsense mutation as well as patients having missense mutations, c.1202 GNA (p.Arg401Gln), c.1816 TNC (p.Ser606Pro) and c.1979 GNA (p.Arg660Gln) (Table 4). Login to comment

PMID: 21966424 [PubMed] Kumar N et al: "Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India."

No. Sentence Comment

87 The lower left panel shows the four novel mutations (a) c.1903_04insCCA/ Val635delinsAlaMet (TGG in antisense strand with reverse primer), (b) c.1979G.A/Arg660Gln, (c) c.1993_95delinsGAG/Lys665delinsGlu and (d) c.1673T.C/Ile558Thr. Login to comment
105 The 2 missense novel mutations c.1673T.C (Ile558Thr) and c.1979G.A (Arg660Gln) were identified in exons 7 and 9 respectively. Login to comment
156 Patients Phenotype1 Age(Year) Sex Exon/IVS Mutation Type Mutations Protein Localization ALDP PSIC Score5 P01* ccALD 4 M 9 Inframe del/ins c.1903_04delinsCCA/Val635delinsAlaMet NBF + + - P02* ccALD 5 M 9 Missense c.1979G.A/Arg660Gln - - 2.409 P03 ccALD 3 M IVS84 Frameshift g.1866-10G.A/Arg622fs Walker B3 - - P04 ccALD 4.5 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P05 ccALD 6 M 9 Frameshift c.1939_40insGG/Ala646fs NBF n.d - P06 ccALD 7 M 2 Missense c.904G.A/Glu302Lys TMD + + 2.194 P07 ccALD 8 M 3 Missense c.1202G.A/Arg401Gln - + ++ 2.396 P08* ccALD 8 M 10 Inframe del/ins c.1993_95delinsGAG/Lys665delinsGlu - + + - P09 AdolCALD 11 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P10 AdolCALD 11 M 8 Missense c.1816T.C/Ser606Pro C sequence - 2.499 P11 AdolCALD 15 M IVS8 Frameshift g.1866-10G.A/Arg622fs Walker B + - P12 ACALD 42 M 8 Missense c.1825G.A/Glu609Lys C sequence3 - 2.075 P13* ACALD 46 M 7 Missense c.1673T.C/Ile558Thr NBF3 + ++ 1.211 P14 AMN 26 M 9 Frameshift c.1939_40insGG/Ala646fs - - - P15 AMN 35 M 1 Missense c.796G.A/Gly266Arg TMD2 + ++ 2.539 P16 Asymptomatic 18 F 7 Missense c.1771C.T/Arg591Trp NBF + ++ 2.818 P17 Asymptomatic 26 F 1 Frameshift c.110_17del8/Val36fs - + + - *Novel Mutations, 1 ccALD-Childhood Adrenoleukodystrophy, AMN-Adrenomyeloneuropathy, ACALD-Adult Cerebral Adrenoleukodystrophy, AdolCALD- Adolescent cerebral Adrenoleukodystrophy. Login to comment
168 Lane 1 and 10 (Control by symbol ''C``), Lane 2 (P01, ccALD, V635delins A & M), Lane 3 (P02, ccALD, R660Q), Lane 4 (P03, ccALD, R622fs), Lane 5 (P04, ccALD, G266R), Lane 6 (P06, ccALD, E302K), Lane 7 (P07, ccALD, R401Q), Lane 8 (P08, ccALD, K665delinsE), Lane 9 (P09, AdolCALD, G266R), Lane 11 (P10, AdolCALD, S606P), Lane 12 (P11, AdolCALD, R622fs), Lane 13 (P12, ACALD, E609K), Lane 14 (P13, ACALD, I558T), Lane 15 (P14, AMN, A646fs), Lane 16 (P15, AMN, G266R), Lane 17 (P16, asymptomatic female, R591W) and Lane 18 (P17, asymptomatic female,). Login to comment
86 The lower left panel shows the four novel mutations (a) c.1903_04insCCA/ Val635delinsAlaMet (TGG in antisense strand with reverse primer), (b) c.1979G.A/Arg660Gln, (c) c.1993_95delinsGAG/Lys665delinsGlu and (d) c.1673T.C/Ile558Thr. Login to comment
104 The 2 missense novel mutations c.1673T.C (Ile558Thr) and c.1979G.A (Arg660Gln) were identified in exons 7 and 9 respectively. Login to comment
155 Patients Phenotype1 Age(Year) Sex Exon/IVS Mutation Type Mutations Protein Localization ALDP PSIC Score5 P01* ccALD 4 M 9 Inframe del/ins c.1903_04delinsCCA/Val635delinsAlaMet NBF + + - P02* ccALD 5 M 9 Missense c.1979G.A/Arg660Gln - - 2.409 P03 ccALD 3 M IVS84 Frameshift g.1866-10G.A/Arg622fs Walker B3 - - P04 ccALD 4.5 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P05 ccALD 6 M 9 Frameshift c.1939_40insGG/Ala646fs NBF n.d - P06 ccALD 7 M 2 Missense c.904G.A/Glu302Lys TMD + + 2.194 P07 ccALD 8 M 3 Missense c.1202G.A/Arg401Gln - + ++ 2.396 P08* ccALD 8 M 10 Inframe del/ins c.1993_95delinsGAG/Lys665delinsGlu - + + - P09 AdolCALD 11 M 1 Missense c.796G.A/Gly266Arg TMD + ++ 2.539 P10 AdolCALD 11 M 8 Missense c.1816T.C/Ser606Pro C sequence - 2.499 P11 AdolCALD 15 M IVS8 Frameshift g.1866-10G.A/Arg622fs Walker B + - P12 ACALD 42 M 8 Missense c.1825G.A/Glu609Lys C sequence3 - 2.075 P13* ACALD 46 M 7 Missense c.1673T.C/Ile558Thr NBF3 + ++ 1.211 P14 AMN 26 M 9 Frameshift c.1939_40insGG/Ala646fs - - - P15 AMN 35 M 1 Missense c.796G.A/Gly266Arg TMD2 + ++ 2.539 P16 Asymptomatic 18 F 7 Missense c.1771C.T/Arg591Trp NBF + ++ 2.818 P17 Asymptomatic 26 F 1 Frameshift c.110_17del8/Val36fs - + + - *Novel Mutations, 1 ccALD-Childhood Adrenoleukodystrophy, AMN-Adrenomyeloneuropathy, ACALD-Adult Cerebral Adrenoleukodystrophy, AdolCALD- Adolescent cerebral Adrenoleukodystrophy. Login to comment
167 Lane 1 and 10 (Control by symbol ''C``), Lane 2 (P01, ccALD, V635delins A & M), Lane 3 (P02, ccALD, R660Q), Lane 4 (P03, ccALD, R622fs), Lane 5 (P04, ccALD, G266R), Lane 6 (P06, ccALD, E302K), Lane 7 (P07, ccALD, R401Q), Lane 8 (P08, ccALD, K665delinsE), Lane 9 (P09, AdolCALD, G266R), Lane 11 (P10, AdolCALD, S606P), Lane 12 (P11, AdolCALD, R622fs), Lane 13 (P12, ACALD, E609K), Lane 14 (P13, ACALD, I558T), Lane 15 (P14, AMN, A646fs), Lane 16 (P15, AMN, G266R), Lane 17 (P16, asymptomatic female, R591W) and Lane 18 (P17, asymptomatic female,). Login to comment