Difference between revisions of "Lab Journal - Task 7 (PAH)"

From Bioinformatikpedia
(→‎Mutation Map)
(→‎Mutation Map)
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|-
  
|-
 
|CM961070||434||A>T||Asp145Val||HGMD
  
|CM961070||434||A>T||Asp145Val||HGMD
  +
|-
  +
|rs80297647||442||G>A||Gly148Ser||dbSNP,untested
 
|-
  
|-
 
|CM056668||470||G>T||Arg157Ile||HGMD
  
|CM056668||470||G>T||Arg157Ile||HGMD
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|CM011946||508||C>G||His170Asp||HGMD
  
|CM011946||508||C>G||His170Asp||HGMD
 
|-
  
|-
−
|rs192592111||516||G>T||Gln172His||dbSNP
 +
|rs192592111||516||G>T||Gln172His||dbSNP,untested
 
|-
  
|-
 
|CM981435||561||G>C||Trp187Cys||HGMD
  
|CM981435||561||G>C||Trp187Cys||HGMD
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|-
  
|-
 
|CM971131||673||C>A||Pro225Thr||HGMD
  
|CM971131||673||C>A||Pro225Thr||HGMD
  +
|-
  +
|rs62517178||715||G>A||Gly239Ser||dbSNP,pathogenic
 
|-
  
|-
 
|CM034744||716||G>A||Gly239Asp||HGMD
  
|CM034744||716||G>A||Gly239Asp||HGMD
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|CM981442||794||G>A||Cys265Tyr||HGMD
  
|CM981442||794||G>A||Cys265Tyr||HGMD
 
|-
  
|-
−
|rs62508752||796||A>C||Thr266Ala||dbSNP
 +
|rs62508752||796||A>C||Thr266Ala||dbSNP,untested
 
|-
  
|-
 
|CM081725||813||T>G||His271Gln||HGMD
  
|CM081725||813||T>G||His271Gln||HGMD
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|-
  
|-
 
|rs5030851||842||C>T||Pro281Leu||OMIM/dbSNP
  
|rs5030851||842||C>T||Pro281Leu||OMIM/dbSNP
  +
|-
  +
|rs62507327||864||G>C||Leu288Phe||dbSNP,untested
 
|-
  
|-
 
|CM055475||869||A>G||His290Arg||HGMD
  
|CM055475||869||A>G||His290Arg||HGMD
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|-
  
|-
 
|CM010981||1022||A>C||Lys341Thr||HGMD
  
|CM010981||1022||A>C||Lys341Thr||HGMD
  +
|-
  +
|rs62508651||1027||T>G Tyr343Asp||dbSNP,untested
 
|-
  
|-
 
|CM000550||1031||G>T||Gly344Val||HGMD
  
|CM000550||1031||G>T||Gly344Val||HGMD
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|rs5030856||1169||A>G||Glu390Gly||OMIM/dbSNP
  
|rs5030856||1169||A>G||Glu390Gly||OMIM/dbSNP
 
|-
  
|-
−
|rs199475695||1175||T>C||Phe392Ser||dbSNP
 +
|rs199475695||1175||T>C||Phe392Ser||dbSNP,untested
 
|-
  
|-
 
|CM043319||1184||C>A||Ala395Asp||HGMD
  
|CM043319||1184||C>A||Ala395Asp||HGMD
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|-
  
|-
 
|rs5030859||1223||G>A||Arg408Gln||OMIM/dbSNP
  
|rs5030859||1223||G>A||Arg408Gln||OMIM/dbSNP
  +
|-
  +
|rs62644467||1237||C>T||Arg413Cys||dbSNP,untested
 
|-
  
|-
 
|rs79931499||1238||G>C||Arg413Pro||OMIM/dbSNP
  
|rs79931499||1238||G>C||Arg413Pro||OMIM/dbSNP
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|CM920565||1252||A>C||Thr418Pro||HGMD
  
|CM920565||1252||A>C||Thr418Pro||HGMD
 
|-
  
|-
−
|rs199475696||1262||T>C||Ile421Thr||dbSNP
 +
|rs199475696||1262||T>C||Ile421Thr||dbSNP,untested
 
|-
  
|-
 
|CM993961||1271||T>C||Leu424Ser||HGMD
  
|CM993961||1271||T>C||Leu424Ser||HGMD

Revision as of 14:18, 5 August 2013

Mutation Map

SNP ID Pos. (bp) Nucleotides Amino acids Database
rs62514891 1 A>G Met1Val OMIM/dbSNP
CM000541 2 T>G Met1Arg HGMD
rs62514893 3 G>A Met1Ile OMIM/dbSNP
CM010947 46 T>C Ser16Pro HGMD
CM000542 59 A>T Gln20Leu HGMD
HM972014 65 C>A Thr22Lys HGMD
rs62642926 117 C>G Phe39Leu OMIM/dbSNP
CM961063 119 C>T Ser40Leu HGMD
rs74603784 136 G>A Gly46Ser OMIM/dbSNP
CM993577 140 C>A Ala47Glu HGMD
rs5030841 143 T>C Leu48Ser OMIM/dbSNP
CM981427 158 G>A Arg53His HGMD
CM024619 181 A>G Asn61Asp HGMD
rs75193786 194 T>C Ile65Thr OMIM/dbSNP
CM981429 208 T>C Ser70Pro HGMD
CM961066 250 G>T Asp84Tyr HGMD
CM981431 281 T>G Ile94Ser HGMD
CM992944 299 A>G His100Arg HGMD
CM045080 307 G>A Gly103Ser HGMD
CM010951 329 C>T Ser110Leu HGMD
rs76296470 331 C>T Arg111Ter OMIM/dbSNP
CM971124 365 C>A Pro122Gln HGMD
rs199475681 368 G>T Arg123Ile dbSNP
CM010952 385 G>T Asp129Tyr HGMD
CM981432 395 C>T Ala132Val HGMD
CM961070 434 A>T Asp145Val HGMD
rs80297647 442 G>A Gly148Ser dbSNP,untested
CM056668 470 G>T Arg157Ile HGMD
rs5030843 473 G>A Arg158Gln OMIM/dbSNP
CM992371 506 G>A Arg169His HGMD
CM011946 508 C>G His170Asp HGMD
rs192592111 516 G>T Gln172His dbSNP,untested
CM981435 561 G>C Trp187Cys HGMD
CM950887 581 T>C Leu194Pro HGMD
CM981438 608 G>A Cys203Tyr HGMD
rs62514927 611 A>G Tyr204Cys OMIM/dbSNP
CM010961 648 C>G Tyr216Term HGMD
rs62514934 662 A>G Glu221Gly OMIM/dbSNP
CM971131 673 C>A Pro225Thr HGMD
rs62517178 715 G>A Gly239Ser dbSNP,pathogenic
CM034744 716 G>A Gly239Asp HGMD
rs5030846 727 C>T Arg243Ter OMIM/dbSNP
rs62508588 728 G>A Arg243Gln OMIM/dbSNP
rs118203923 731 C>T Pro244Leu OMIM/dbSNP
CM920550 731 C>T Pro244Leu HGMD
rs5030847 754 C>T Arg252Trp OMIM/dbSNP
CM920553 763 T>G Leu255Val HGMD
rs62642930 764 T>C Leu255Ser OMIM/dbSNP
rs118203921 776 C>T Ala259Val OMIM/dbSNP
CM910286 776 C>T Ala259Val HGMD
rs5030850 781 C>T Arg261Ter OMIM/dbSNP
rs5030849 782 G>A Arg261Gln OMIM/dbSNP
CM981442 794 G>A Cys265Tyr HGMD
rs62508752 796 A>C Thr266Ala dbSNP,untested
CM081725 813 T>G His271Gln HGMD
rs62514952 814 G>T Gly272Ter OMIM/dbSNP
rs62514953 818 C>T Ser273Phe OMIM/dbSNP
CM034745 827 T>G Met276Arg HGMD
rs78655458 829 T>G Tyr277Asp OMIM/dbSNP
rs62508698 838 G>A Glu280Lys OMIM/dbSNP
CM992948 841 C>T Pro281Ser HGMD
rs5030851 842 C>T Pro281Leu OMIM/dbSNP
rs62507327 864 G>C Leu288Phe dbSNP,untested
CM055475 869 A>G His290Arg HGMD
rs62642933 896 T>G Phe299Cys OMIM/dbSNP
CM015134 922 C>T Leu308Phe HGMD
rs62642936 932 T>C Leu311Pro OMIM/dbSNP
CM024623 940 C>T Pro314Ser HGMD
rs62514959 977 G>A Trp326Ter OMIM/dbSNP
CM990999 981 T>G Phe327Leu HGMD
CM961082 992 T>G Phe331Cys HGMD
CM043317 1007 A>G Gln336Arg HGMD
CM010981 1022 A>C Lys341Thr HGMD
rs62508651 1027 T>G Tyr343Asp dbSNP,untested
CM000550 1031 G>T Gly344Val HGMD
rs62508646 1045 T>C Ser349Pro OMIM/dbSNP
CM981453 1048 T>A Ser350Thr HGMD
rs62516095 1068 C>G Tyr356Ter OMIM/dbSNP
CM101146 1071 C>A Cys357Term HGMD
rs5030854 1076 C>G Ser359Ter OMIM/dbSNP
CM068054 1089 G>T Lys363Asn HGMD
CM010984 1130 A>G Tyr377Cys HGMD
CM950896 1157 A>G Tyr386Cys HGMD
rs62516101 1162 G>A Val388Met OMIM/dbSNP
rs5030856 1169 A>G Glu390Gly OMIM/dbSNP
rs199475695 1175 T>C Phe392Ser dbSNP,untested
CM043319 1184 C>A Ala395Asp HGMD
CM030921 1204 T>C Phe402Leu HGMD
rs62644473 1220 C>T Pro407Leu OMIM/dbSNP
rs5030858 1222 C>T Arg408Trp dbSNP
rs5030859 1223 G>A Arg408Gln OMIM/dbSNP
rs62644467 1237 C>T Arg413Cys dbSNP,untested
rs79931499 1238 G>C Arg413Pro OMIM/dbSNP
CM101145 1242 C>A Tyr414Term HGMD
CM090791 1247 C>A Pro416Gln HGMD
CM920565 1252 A>C Thr418Pro HGMD
rs199475696 1262 T>C Ile421Thr dbSNP,untested
CM993961 1271 T>C Leu424Ser HGMD
CM010986 1289 T>C Leu430Pro HGMD
CM961086 1340 C>A Ala447Asp HGMD
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