Sorting Intolerant From Tolerant
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Sorting Intolerant From Tolerant
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Mutation Analysis Of Tetherin In I Mutant 3 0 And Sorting Intolerant
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Mutation Analysis Of Tetherin In I Mutant 3 0 And Sorting Intolerant
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Emma M Haapaniemi MD Christopher L Ppt Download
+Ala253+in+NELF+(NP_056352)+is+evolutionarily+fully+conserved+in+seven+available+orthologues.+Thus+the+change+of+this+hydrophobic+residue+to+a+hydrophilic+Thr+is+likely+to+be+deleterious.+This+has+also+been+shown+by+sorting+intolerant+from+tolerant+(SIFT)%2C+which+compares+the+amino+acid+change+to+known+orthologues+and+calculates+a+probability+based+on+homology+of+whether+it+will+be+tolerated+(likely+benign)+or+not+(likely+a+mutation).+(B)+The+previously+reported+Thr478+NELF+(NP_056352)+missense+mutation+(see+text)+shows+only+partial+conservation+in+four+orthologues+among+seven+available+species.+(C)+Cys163+in+the+whey-acidic-protein+(WAP)+domain+in+anosmin-1+(NP_000207)+is+also+evolutionarily+fully+conserved+in+all+12+available+orthologues%2C+suggesting+that+its+deletion+in+patient+C7+would+be+detrimental.+All+eight+cysteine+residues+in+the+WAP+domain+in+these+12+orthologues+are+invariant%2C+and+here+only+five+cysteine+residues+are+shown+as+invariant.+(D)+4-Disulfide+bonds+of+the+WAP+domain+of+KAL1-encoded+anosmin-1+protein+are+shown+with+blue+lines+connecting+two+Cys+molecules.+The+deleted+Cys163+marked+by+an+asterisk+is+forming+a+disulphide+bridge+with+Cys134.+Positions+of+residues+affected+by+NELF+missense+mutation+and+Cys163+KAL1+deletion+in+KS+patient+C7+are+marked+by+asterisks+and+red+letters+in+all+available+orthologues.+Amino+acid+abbreviations+in+green+represent+the+invariant+residues+that+match+the+consensus+exactly%2C+and+abbreviations+in+blue+show+partial+matching..jpg "Nasal Embryonic LHRH Factor NELF Mutations In Patients With Normosmic")
Nasal Embryonic LHRH Factor NELF Mutations In Patients With Normosmic
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