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. 2013 Apr 18;9(4):e1003432. doi: 10.1371/journal.pgen.1003432

Table 1. Summary of inactivating mutations in cetacean SWS1 and LWS genes.

SWS1 Mutations
Taxon Number of Exon or Intron Inactivating Mutation Including Alignment Number and Nucleotide Position(s) Location on Tree (Ancestral Node Number: Descendant Node Number)
Tursiops truncatus Exon 1 1-bp frameshift deletion (Alignment1:34) 49∶24
Mysticeti, Mesoplodon bidens, Platanista minor, Phocoenoides dalli (polymorphic), Delphinapterus leucas (polymorphic) Exon 1 4-bp frameshift deletion (Alignment1:270–273) 27∶28, 41∶13, 37∶12, 47∶20, 45∶22
Physeter macrocephalus Exon 1 1-bp frameshift insertion (Alignment1:310) 36∶10
Globicephala melas Exon 1 50-bp frameshift deletion (Alignment1:261–311) 48∶25
Pontoporia blainvillei Exon 1 2-bp frameshift deletion (Alignment1:308–309) 43∶17
Odontoceti Exon 1 E113G amino acid replacement at the Schiff's base counterion site (bovine rhodopsin numbering) (Alignment1:338–340) 27∶35
Berardius bairdii Intron 1 GT to GC splice site mutation (Alignment1:363–364) 39∶16
Eschrichtius robustus Exon 2 8-bp frameshift deletion (Alignment1:808–815) 33∶6
Globicephala melas Exon 3 4-bp frameshift insertion (Alignment1:1438–1441) 48∶25
Caperea marginata Intron 3 GT to GC splice site mutation (Alignment1:1489–1490) 30∶4
Platanista minor Exon 4 1-bp frameshift insertion (Alignment1:2201) 37∶12
Kogia breviceps Exon 4 1-bp frameshift deletion (Alignment1:2336) 36∶11
Pontoporia blainvillei Exon 4 2-bp frameshift insertion (Alignment1:2337–2338) 43∶17
Physeteroidea Intron 4 GT to GA splice site mutation (Alignment1:2382–2383) 35∶36
Tursiops truncatus Exon 5 1-bp deletion (Alignment1:4079) 49∶24
Balaenoptera acutorostrata Exon 5 2-bp frameshift deletion (Alignment1:4103–4104) 31∶9

Inactivating mutations include frameshifts, Schiff's base counterion site mutations, and splice site mutations. All alignments are provided in Text S3. Inactivating mutations are also cross-referenced to branches in Figure 1.