PMID: 16385454

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American journal of human genetics
S Ferdinandusse, MS Ylianttila, J Gloerich, MK Koski, W Oostheim, HR Waterham, JK Hiltunen, RJ Wanders, T Glumoff
2006-01

41 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-197748389-CTACTGCCCTTTCAGTCAGGAATTCAGTTGGCATTTAAGTGGTGAATATCAGCGCAGCTC-C LMLN c.1438_1503del66 p.Tyr480_cys501del InFrameDeletion 13/16 -
3-197726192-CTGGCATTAATGGAGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTAT-C LMLN c.1211_1262del19962 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/16 11/15
X-38420844-TC-T TSPAN7 c.45delC p.Thr17Profs*15 Frameshift 1/8 -
19-49134099-G-GACA DBP c.972_973insTGT p.Ala324_leu325insCys InFrameInsertion 4/4 -
19-49134246-CGGG-C DBP c.824_826delCCC p.Ala275_arg276delinsGly MultiAAMissense 4/4 -
6-32147662-ACTCCACCCCGCCCCCAGGGCCA-A RNF5 c.281_302del22 p.Thr94Argfs*97 Frameshift 4/6 -
19-49138993-G-A DBP c.394C>T p.Pro132Ser Missense 2/4 -
19-49136842-CGGGTTCAAAGGTCATCAACACCTCCACGGTGTCTGGGTCCACAGGGCTGGGTGTGTCCC-C DBP c.281_622del2266 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/4 -
3-197687286-CGGC-C LMLN c.194_196delGGC p.Arg65delArg InFrameDeletion 1/16 -
19-49138902-G-T DBP c.485C>A p.Pro162His Missense 2/4 -
19-49136750-CTGGGGCTTAAGTTCCTCTTCTGAGAAGCGATGTCTTCGAGGGTCAAAGGTCTCGTGGCC-C DBP c.623_714del92 p.Asp208Alafs*18 Frameshift 3/4 -
19-49136721-G-A DBP c.742C>T p.Gln248* Nonsense 3/4 -
3-197746153-ACGCTCAGAAGTAACCCACTGCAGCTAACTTGCAGACAGGACCAGAGAGCAGTTGCCGTG-A LMLN c.1262_1333del72 p.Thr421_gln444del InFrameDeletion 12/16 -
3-197717542-G-A LMLN c.1042G>A p.Val348Ile Missense 9/16 -
3-197751600-G-C LMLN c.1597G>C p.Val533Leu Missense 14/16 -
3-197726191-TCTGGCATTAATGGAGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTA-T LMLN c.1210_1333del20034 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/16 11/15
X-38420849-C-T TSPAN7 c.50C>T p.Thr17Ile Missense 1/8 -
6-32147880-CAT-C RNF5 c.422_423delAT p.His141Argfs*61 Frameshift 5/6 -
6-32147498-GTCCCGCTTTATGGGCGAGGGAGCCAGAAGCCCCAGGATCCCAGGTGAGAGACTGGAGGT-G RNF5 c.230_289del173 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/6 3/5
19-49134130-C-CC DBP c.942dupG p.Leu315Alafs*70 Frameshift 4/4 -
6-32146364-G-C RNF5 c.76G>C p.Glu26Gln Missense 1/6 -
6-32147489-GAGAAGGTTGTCCCGCTTTATGGGCGAGGGAGCCAGAAGCCCCAGGATCCCAGGTGAGAG-G RNF5 c.221_280del173 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/6 3/5
3-197707362-AGCAAACATGGACAGGTAATCTTTCCTCCGGGACTTAGTTTCCAAGATCTAATGTGGGAA-A LMLN c.715_1261del38791 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/16 6/15
19-49138857-G-A DBP c.530C>T p.Thr177Ile Missense 2/4 -
6-32146331-A-G RNF5 c.43A>G p.Asn15Asp Missense 1/6 -
6-32146389-C-T RNF5 c.101C>T p.Ala34Val Missense 1/6 -
19-49136841-TCGGGTTCAAAGGTCATCAACACCTCCACGGTGTCTGGGTCCACAGGGCTGGGTGTGTCC-T DBP c.435_622del2112 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/4 -
X-38534989-A-G TSPAN7 c.472A>G p.Asn158Asp Missense 5/8 -
6-32146401-GTGGTCAGTGTGTGTGGCCACCTGTACTGGTGAGAATCGAGGAGGGGGGCGGGAGGTGGT-G RNF5 c.113_220del1088 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/6 1/5
6-32147484-C-A RNF5 c.216C>A p.Ser72Arg Missense 3/6 -
19-49136769-C-T DBP c.694G>A p.Glu232Lys Missense 3/4 -
6-32147684-AGAGACCAGCTCCGGAGAGCAGAGGGGTGAGTCTTCTTGTCCAGTTGTGTCCCTTCCTTG-A RNF5 c.303_349del124 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/6 4/5
6-32147501-CCGC-C RNF5 c.233_235delCGC p.Pro78delPro InFrameDeletion 3/6 -
X-38540512-G-T TSPAN7 c.652G>T p.Gly218* Nonsense 6/8 -
19-49134204-AGGAAGGCCGCCCGCACCGATATCTGGTTCTCCTTGAGCCGCCGGGCGTCACGGGACCGC-A DBP c.741_869del2520 - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/4 -
X-38546881-T-C TSPAN7 c.710T>C p.Leu237Pro Missense 7/8 -
19-49140206-C-T DBP c.46G>A p.Gly16Ser Missense 1/4 -
3-197710904-G-T LMLN c.819G>T p.Glu273Asp Missense 7/16 -
19-49134191-GTTCTCCTTCTCCA-G DBP c.869_881del13 p.Leu290Profs*238 Frameshift 4/4 -
6-32146351-G-T RNF5 c.63G>T p.Ala21Ala Synonymous 1/6 -
3-197687138-G-A LMLN c.46G>A p.Gly16Arg Missense 1/16 -