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. Author manuscript; available in PMC: 2013 Jan 1.
Published in final edited form as: Hum Mutat. 2011 Nov 9;33(1):244–253. doi: 10.1002/humu.21635

Table 1.

Identification of AARS variants in patients with CMT

cDNA Change1 Amino-Acid Change2 dbSNP Accession No. NINDS Control Chromosomes ClinSeq™ Chromosomes
c.986G>A R329H NP 0/1086 0/802
c.1685C>T T562I NP 8/1088 4/802
c.2185C>T R729W NP 2/1090 1/788
c.2333A>C E778A NP 0/954 0/802
c.2791G>A G931S NP 11/1106 12/802
c.2900A>T K967M rs35744709 ND 12/752
1

Nucleotide positions are relative to the open reading frame from GenBank Accession No. NM_001605.2. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines.

2

Amino-acid positions are relative to GenBank Accession No. NP_001596.2. The initiation codon is codon 1.

NP—Not Present

ND—Not Done