41. A missense mutation ( K382N ) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis ( cHSP ). 42. There is significant evidence ( p = 0.020 ) that SUCLA2 patients with missense mutations have longer survival rates. 43. The 508th amino acid, normally lysine, is affected by a missense mutation in some people with Birt Hogg Dub?syndrome. 44. On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation . 45. Two missense mutations , H391Y and K422R, of PKM2 were found in cells from Bloom syndrome patients prone to developing cancer. 46. Missense mutations at location 86 from Arginine to Tryptophan ( R86Y ) and at R180C are related to adenocarcinomas of the colon.47. A missense mutation in Opn4, P10L, has been implicated in 5 % of patients with Seasonal Affective Disorder ( SAD ). 48. The other three are missense mutations and frameshift mutations, which lead to a shortening of amino acid sequence in the C terminus. 49. Over a hundred different mutations in the NCC gene have been described as causing Gitelman syndrome, including splice site and missense mutations . 50. Human missense mutations in RanBP2 were identified in its leucine-rich domain and they cause autosomal dominant necrotizing encephalopathy ( ADNE ).
