Fig. 2

The enlarged view of the residues surrounding missense variants shown in Fig. 1B. A1 wild type Ser19; A2 mutant Pro19; B1wild type Ile21; B2 mutant Thr21; C1 wild type Lys26; C2 mutant Arg26; D1 wild type Asn33; D2 mutant Asp33; E1 wild type Asp38; E2 mutant Glu38; F1 wild type Asn149; F2 mutant Ser149; G1 wild type Asn159; G2 mutant Ser159; H1 wild type Gly173; H2 mutant Ser173; I1 wild type Met383; I2 mutant Ile383; J1 wild type Ile468; J2 mutant Val468; K1 wild type Ala501; K2 mutant Thr501; L1 wild type Gly575; L2 mutant Val575; M1 wild type Phe592; M2 mutant Leu592; N1 wild type Ala627; N2 mutant Val627; O1 wild type Asn638; O2 mutant Ser638; P1 wild type Val658; P2 mutant Ile658; Q1 wild type Glu668; Q2 mutant Lys668; R1 wild type Ser692; R2 mutant Pro692; S1 wild type Arg708; S2 mutant Trp708; T1 wild type Arg710; T2 mutant His710; U1 wild type Asn720; U2 mutant Asp720; V1 wild type Ile727; V2 mutant Val727; W1 wild type Leu731; W2 mutant Ile731; X1 wild type Leu731; X2 mutant Phe731; Y1 wild type Ile753; Y2 mutant Thr753; Z1 wild type Arg768; Z2 mutant Trp768; Z3 wild type Asp785; Z4 mutant Asn785; Z5 wild type Val801; and Z6 mutant Gly801. Signal peptide (pink), peptidase domain (gray), collectrin domain (orange), transmembrane domain (cyan), and cytoplasmic domain (purple) are shown in cartoon representation and amino acids are shown in stick representation