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Table 2 COL5A1 and COL5A2 mutations in patients with cEDS

From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Patient(s) IDs Gene Exon, intron/localization aChange at the nucleotide level bNonsense/Missense bFrameshift Splice site
Mutations leading to type V collagen haploinsufficiency
AN_002501 A1 ex1/N-propeptide c.87G>A° p.(Trp29*)   
AN_002503-05# A1 int7/N-propeptide c.1165-2A>G   p.(Pro389Leufs*168) c Activation of cryptic splice acceptor site 4 bp downstream of WT acceptor
AN_002506 A1 ex13/N-propeptide c.1651C>T° p.(Gln551*)   
AN_002509 A1 int31/helix c.2647-12A>G°   p.(Gly883Leufs*195) c Creation of new splice acceptor site 11 bp upstream of WT acceptor
AN_002510 A1 ex34/helix c.2757_2774del18insA°   p.(Glu920Hisfs*14)  
AN_002511 A1 ex36/helix c.2891dup°   p.(Gly967Trpfs*47)  
AN_002514-15* A1 ex38/helix c.2988del°   p.(Gly997Alafs*77)  
AN_002516 A1 ex38/helix c.2988dup^ e   p.(Gly997Argfs*17)  
AN_002517 A1 ex42/helix c.3328C>T° p.(Gln1110*)   
AN_002520-23# A1 ex45/helix c.3568C>T p.(Gln1190*)   
AN_002524-25* A1 ex48/helix c.3769C>T° e p.(Arg1257*)   
AN_002527 A1 ex62/C-propeptide c.4714del°   p.(Val1572Serfs*47)  
AN_002528-29# A1 ex62/C-propeptide c.4919_4928del10^   p.(Lys1640Serfs*86)  
AN_002530-31# A1 ex63/C-propeptide c.4962C>G p.(Tyr1654*)   
AN_002532 A1 ex66/C-propeptide c.5458_5459del°   p.(Phe1820Argfs*2)  
Large genomic rearrangement identified by MLPA and SNP-array
AN_002535-37# A1   chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup
Mutations affecting the structural integrity of type V collagen
AN_002502 A1 ex4/N-propeptide c.532A>C° p.(Thr178Pro)   
AN_002507-08# A1 ex29/helix c.2436A>T p.(Glu812Asp)   c alteration of an ESE sequence, splice error?
AN_002512-13# A1 int37/helix c.2952+2_2952+3del p.(Gly967_Thr984del)   c in-frame exon 37 skipping
AN_002518-19# A1 ex43/helix c.3413G>A e p.(Gly1138Glu)   
AN_002526 A1 ex54/helix c.4178G>A° p.(Gly1393Asp)   
AN_002533 A2 ex29/helix c.1977G>A° p.(Gly642_Pro659del)   c in-frame exon 29 skipping
AN_002534 A2 int37/helix c.2499+2T>C° p.(Gly816_Pro833del)   d in-frame exon 37 skipping
  1. The patient(s) IDs correspond to the identifiers found in the LOVD EDS Variant Database (; a DNA mutation numbering is based on the cDNA sequence. For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon in the reference sequence. The reference sequences are based on the GenBank Accession no.: COL5A1 NM_000093.3, COL5A2 NM_000393.3. b For protein numbering, +1 corresponds to the first translated amino acid. The reference sequences are based on GenBank Accession no.: COL5A1 NP_000084.3, COL5A2 NP_000384.2. c The effect on splicing was analyzed using four prediction programs (SpliceSite-Finder-like, MaxEntScan, NNSPLICE and Human Splicing Finder) in Alamut software, version 2.2 (Additional file 1: Figures S1–S6). d The effect on mRNA splicing was verified by RT-PCR of total RNA that was purified from the patient’s skin fibroblasts (Additional file 1: Figure S6B). ° de novo mutation verified by parental testing. ^ Parents not available for de novo testing. # Members of the same family. * Members of different families. e Mutation previously reported [18, LOVD].