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