Single nucleotide polymorphisms identified in human tropelastin.

1. SNPs identified through dbSNP are indicated with an appropriate SNP reference. EST indicates that the polymorphism was identified through EST libraries.2. Tropoelastin RefSeq variant 1 (NM_000501) was used for numbering mRNA and amino acid positions, counting from the initiator methionine. Exons 22 and 26a (an extension of exon 26) are not present in this variant and are not included in the position count.3. T/C and Leu/Pro designate Major/Minor allele respectively e.g. from T to C or Leu to Pro, etc.4. Minor allele amino acid is indicated in square brackets5. For SNPs detected through ESTs, minor allele frequency (MAF) indicates the proportion of ESTs sequences coding the minor allele. For SNPs obtained from dbSNP, MAF indicates the range across populations provided through dbSNP.6. Because of phase 1 intron/exon borders, although the mutation site is in the last base of exon 11 the mutated amino acid is the first amino acid coded by exon 12.