(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the CIITA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering CIITA transcript NM_000246.3.(upstream sequence) . g.1013 ggttagtgatgag c.-121 . . . . . . g.1073 gctagtgatgaggctgtgtgcttctgagctgggcatccgaaggcatccttggggaagctg c.-61 . . . . . . g.1133 agggcacgaggaggggctgccagactccgggagctgctgcctggctgggattcctacaca c.-1 . . . . . | 02 . g.19092 ATGCGTTGCCTGGCTCCACGCCCTGCTGGGTCCTACCTGTCAGAGCCCCAAG | GCAGCTCA c.60 M R C L A P R P A G S Y L S E P Q G | S S p.20 . . . . . . g.19152 CAGTGTGCCACCATGGAGTTGGGGCCCCTAGAAGGTGGCTACCTGGAGCTTCTTAACAGC c.120 Q C A T M E L G P L E G G Y L E L L N S p.40 . . . . . . g.19212 GATGCTGACCCCCTGTGCCTCTACCACTTCTATGACCAGATGGACCTGGCTGGAGAAGAA c.180 D A D P L C L Y H F Y D Q M D L A G E E p.60 . | 03 . . . . g.19512 GAGATTGAGCTCTACTCAG | AACCCGACACAGACACCATCAACTGCGACCAGTTCAGCAGG c.240 E I E L Y S E | P D T D T I N C D Q F S R p.80 . . . . . | 04 . g.22477 CTGTTGTGTGACATGGAAGGTGATGAAGAGACCAGGGAGGCTTATGCCAATATCG | CGGAA c.300 L L C D M E G D E E T R E A Y A N I A | E p.100 . . . . . | 05 g.22729 CTGGACCAGTATGTCTTCCAGGACTCCCAGCTGGAGGGCCTGAGCAAGGACATTTTCA | AG c.360 L D Q Y V F Q D S Q L E G L S K D I F K | p.120 . . . . . . g.22789 CACATAGGACCAGATGAAGTGATCGGTGAGAGTATGGAGATGCCAGCAGAAGTTGGGCAG c.420 H I G P D E V I G E S M E M P A E V G Q p.140 . | 06 . . . . . g.25360 AAAAGTCAGAAAAGAC | CCTTCCCAGAGGAGCTTCCGGCAGACCTGAAGCACTGGAAGCCA c.480 K S Q K R P | F P E E L P A D L K H W K P p.160 | 07 . . . . . . g.25899 G | CTGAGCCCCCCACTGTGGTGACTGGCAGTCTCCTAGTGAGACCAGTGAGCGACTGCTCC c.540 A | E P P T V V T G S L L V R P V S D C S p.180 . . . . . . g.25959 ACCCTGCCCTGCCTGCCACTGCCTGCGCTGTTCAACCAGGAGCCAGCCTCCGGCCAGATG c.600 T L P C L P L P A L F N Q E P A S G Q M p.200 . . | 08 . . . g.26492 CGCCTGGAGAAAACCGACCAGATTCCCA | TGCCTTTCTCCAGTTCCTCGTTGAGCTGCCTG c.660 R L E K T D Q I P M | P F S S S S L S C L p.220 . . . . . . g.26552 AATCTCCCTGAGGGACCCATCCAGTTTGTCCCCACCATCTCCACTCTGCCCCATGGGCTC c.720 N L P E G P I Q F V P T I S T L P H G L p.240 . . . . . | 09 . g.27541 TGGCAAATCTCTGAGGCTGGAACAGGGGTCTCCAGTATATTCATCTACCATG | GTGAGGTG c.780 W Q I S E A G T G V S S I F I Y H G | E V p.260 . . . . . . g.27601 CCCCAGGCCAGCCAAGTACCCCCTCCCAGTGGATTCACTGTCCACGGCCTCCCAACATCT c.840 P Q A S Q V P P P S G F T V H G L P T S p.280 . . . . . . g.27661 CCAGACCGGCCAGGCTCCACCAGCCCCTTCGCTCCATCAGCCACTGACCTGCCCAGCATG c.900 P D R P G S T S P F A P S A T D L P S M p.300 . . . | 10. . . g.28569 CCTGAACCTGCCCTGACCTCCCGAGCAAACATGACAG | AGCACAAGACGTCCCCCACCCAA c.960 P E P A L T S R A N M T E | H K T S P T Q p.320 . . . . | 11 . . g.30315 TGCCCGGCAGCTGGAGAGGTCTCCAACAAGCTTCCAAAATGGCCTG | AGCCGGTGGAGCAG c.1020 C P A A G E V S N K L P K W P E | P V E Q p.340 . . . . . . g.30375 TTCTACCGCTCACTGCAGGACACGTATGGTGCCGAGCCCGCAGGCCCGGATGGCATCCTA c.1080 F Y R S L Q D T Y G A E P A G P D G I L p.360 . . . . . . g.30435 GTGGAGGTGGATCTGGTGCAGGCCAGGCTGGAGAGGAGCAGCAGCAAGAGCCTGGAGCGG c.1140 V E V D L V Q A R L E R S S S K S L E R p.380 . . . . . . g.30495 GAACTGGCCACCCCGGACTGGGCAGAACGGCAGCTGGCCCAAGGAGGCCTGGCTGAGGTG c.1200 E L A T P D W A E R Q L A Q G G L A E V p.400 . . . . . . g.30555 CTGTTGGCTGCCAAGGAGCACCGGCGGCCGCGTGAGACACGAGTGATTGCTGTGCTGGGC c.1260 L L A A K E H R R P R E T R V I A V L G p.420 . . . . . . g.30615 AAAGCTGGTCAGGGCAAGAGCTATTGGGCTGGGGCAGTGAGCCGGGCCTGGGCTTGTGGC c.1320 K A G Q G K S Y W A G A V S R A W A C G p.440 . . . . . . g.30675 CGGCTTCCCCAGTACGACTTTGTCTTCTCTGTCCCCTGCCATTGCTTGAACCGTCCGGGG c.1380 R L P Q Y D F V F S V P C H C L N R P G p.460 . . . . . . g.30735 GATGCCTATGGCCTGCAGGATCTGCTCTTCTCCCTGGGCCCACAGCCACTCGTGGCGGCC c.1440 D A Y G L Q D L L F S L G P Q P L V A A p.480 . . . . . . g.30795 GATGAGGTTTTCAGCCACATCTTGAAGAGACCTGACCGCGTTCTGCTCATCCTAGACGGC c.1500 D E V F S H I L K R P D R V L L I L D G p.500 . . . . . . g.30855 TTCGAGGAGCTGGAAGCGCAAGATGGCTTCCTGCACAGCACGTGCGGACCGGCACCGGCG c.1560 F E E L E A Q D G F L H S T C G P A P A p.520 . . . . . . g.30915 GAGCCCTGCTCCCTCCGGGGGCTGCTGGCCGGCCTTTTCCAGAAGAAGCTGCTCCGAGGT c.1620 E P C S L R G L L A G L F Q K K L L R G p.540 . . . . . . g.30975 TGCACCCTCCTCCTCACAGCCCGGCCCCGGGGCCGCCTGGTCCAGAGCCTGAGCAAGGCC c.1680 C T L L L T A R P R G R L V Q S L S K A p.560 . . . . . . g.31035 GACGCCCTATTTGAGCTGTCCGGCTTCTCCATGGAGCAGGCCCAGGCATACGTGATGCGC c.1740 D A L F E L S G F S M E Q A Q A Y V M R p.580 . . . . . . g.31095 TACTTTGAGAGCTCAGGGATGACAGAGCACCAAGACAGAGCCCTGACGCTCCTCCGGGAC c.1800 Y F E S S G M T E H Q D R A L T L L R D p.600 . . . . . . g.31155 CGGCCACTTCTTCTCAGTCACAGCCACAGCCCTACTTTGTGCCGGGCAGTGTGCCAGCTC c.1860 R P L L L S H S H S P T L C R A V C Q L p.620 . . . . . . g.31215 TCAGAGGCCCTGCTGGAGCTTGGGGAGGACGCCAAGCTGCCCTCCACGCTCACGGGACTC c.1920 S E A L L E L G E D A K L P S T L T G L p.640 . . . . . . g.31275 TATGTCGGCCTGCTGGGCCGTGCAGCCCTCGACAGCCCCCCCGGGGCCCTGGCAGAGCTG c.1980 Y V G L L G R A A L D S P P G A L A E L p.660 . . . . . . g.31335 GCCAAGCTGGCCTGGGAGCTGGGCCGCAGACATCAAAGTACCCTACAGGAGGACCAGTTC c.2040 A K L A W E L G R R H Q S T L Q E D Q F p.680 . . . . . . g.31395 CCATCCGCAGACGTGAGGACCTGGGCGATGGCCAAAGGCTTAGTCCAACACCCACCGCGG c.2100 P S A D V R T W A M A K G L V Q H P P R p.700 . . . . . . g.31455 GCCGCAGAGTCCGAGCTGGCCTTCCCCAGCTTCCTCCTGCAATGCTTCCTGGGGGCCCTG c.2160 A A E S E L A F P S F L L Q C F L G A L p.720 . . . . . . g.31515 TGGCTGGCTCTGAGTGGCGAAATCAAGGACAAGGAGCTCCCGCAGTACCTAGCATTGACC c.2220 W L A L S G E I K D K E L P Q Y L A L T p.740 . . . . . . g.31575 CCAAGGAAGAAGAGGCCCTATGACAACTGGCTGGAGGGCGTGCCACGCTTTCTGGCTGGG c.2280 P R K K R P Y D N W L E G V P R F L A G p.760 . . . . . . g.31635 CTGATCTTCCAGCCTCCCGCCCGCTGCCTGGGAGCCCTACTCGGGCCATCGGCGGCTGCC c.2340 L I F Q P P A R C L G A L L G P S A A A p.780 . . . . . . g.31695 TCGGTGGACAGGAAGCAGAAGGTGCTTGCGAGGTACCTGAAGCGGCTGCAGCCGGGGACA c.2400 S V D R K Q K V L A R Y L K R L Q P G T p.800 . . . . . . g.31755 CTGCGGGCGCGGCAGCTGCTGGAGCTGCTGCACTGCGCCCACGAGGCCGAGGAGGCTGGA c.2460 L R A R Q L L E L L H C A H E A E E A G p.820 . . . . . . g.31815 ATTTGGCAGCACGTGGTACAGGAGCTCCCCGGCCGCCTCTCTTTTCTGGGCACCCGCCTC c.2520 I W Q H V V Q E L P G R L S F L G T R L p.840 . . . . . . g.31875 ACGCCTCCTGATGCACATGTACTGGGCAAGGCCTTGGAGGCGGCGGGCCAAGACTTCTCC c.2580 T P P D A H V L G K A L E A A G Q D F S p.860 . . . . . . g.31935 CTGGACCTCCGCAGCACTGGCATTTGCCCCTCTGGATTGGGGAGCCTCGTGGGACTCAGC c.2640 L D L R S T G I C P S G L G S L V G L S p.880 . | 12. . . . . g.32874 TGTGTCACCCGTTTCAG | GGCTGCCTTGAGCGACACGGTGGCGCTGTGGGAGTCCCTGCAG c.2700 C V T R F R | A A L S D T V A L W E S L Q p.900 . . . . . . g.32934 CAGCATGGGGAGACCAAGCTACTTCAGGCAGCAGAGGAGAAGTTCACCATCGAGCCTTTC c.2760 Q H G E T K L L Q A A E E K F T I E P F p.920 . . . . . | 13 . g.33994 AAAGCCAAGTCCCTGAAGGATGTGGAAGACCTGGGAAAGCTTGTGCAGACTCAGAG | GACG c.2820 K A K S L K D V E D L G K L V Q T Q R | T p.940 . . . . . . g.34054 AGAAGTTCCTCGGAAGACACAGCTGGGGAGCTCCCTGCTGTTCGGGACCTAAAGAAACTG c.2880 R S S S E D T A G E L P A V R D L K K L p.960 | 14 . . . . . g.39424 GAGTTTGC | GCTGGGCCCTGTCTCAGGCCCCCAGGCTTTCCCCAAACTGGTGCGGATCCTC c.2940 E F A | L G P V S G P Q A F P K L V R I L p.980 . . | 15 . . . g.40200 ACGGCCTTTTCCTCCCTGCAGCATCTGGA | CCTGGATGCGCTGAGTGAGAACAAGATCGGG c.3000 T A F S S L Q H L D | L D A L S E N K I G p.1000 . . . . . . g.40260 GACGAGGGTGTCTCGCAGCTCTCAGCCACCTTCCCCCAGCTGAAGTCCTTGGAAACCCTC c.3060 D E G V S Q L S A T F P Q L K S L E T L p.1020 | 16 . . . . . . g.42300 AA | TCTGTCCCAGAACAACATCACTGACCTGGGTGCCTACAAACTCGCCGAGGCCCTGCCT c.3120 N | L S Q N N I T D L G A Y K L A E A L P p.1040 . . | 17 . . . g.46000 TCGCTCGCTGCATCCCTGCTCAGGCTAAG | CTTGTACAATAACTGCATCTGCGACGTGGGA c.3180 S L A A S L L R L S | L Y N N C I C D V G p.1060 . . . . . | 18 . g.46216 GCCGAGAGCTTGGCTCGTGTGCTTCCGGACATGGTGTCCCTCCGGGTGATGGA | CGTCCAG c.3240 A E S L A R V L P D M V S L R V M D | V Q p.1080 . . . . . . g.46276 TACAACAAGTTCACGGCTGCCGGGGCCCAGCAGCTCGCTGCCAGCCTTCGGAGGTGTCCT c.3300 Y N K F T A A G A Q Q L A A S L R R C P p.1100 . | 19. . . . . g.47073 CATGTGGAGACGCTGGC | GATGTGGACGCCCACCATCCCATTCAGTGTCCAGGAACACCTG c.3360 H V E T L A | M W T P T I P F S V Q E H L p.1120 . . . g.47106 CAACAACAGGATTCACGGATCAGCCTGAGATGA | c.3394 Q Q Q D S R I S L R X p.1130 . . | 20 . . . . g.47718 tcccagctgtgctctggacagg | catgttctctgaggacactaaccacgctggaccttgaa c.*60 . . . . . . g.47778 ctgggtacttgtggacacagctcttctccaggctgtatcccatgagcctcagcatcctgg c.*120 . . . . . . g.47838 cacccggcccctgctggttcagggttggcccctgcccggctgcggaatgaaccacatctt c.*180 . . . . . . g.47898 gctctgctgacagacacaggcccggctccaggctcctttagcgcccagttgggtggatgc c.*240 . . . . . . g.47958 ctggtggcagctgcggtccacccaggagccccgaggccttctctgaaggacattgcggac c.*300 . . . . . . g.48018 agccacggccaggccagagggagtgacagaggcagccccattctgcctgcccaggcccct c.*360 . . . . . . g.48078 gccaccctggggagaaagtacttctttttttttatttttagacagagtctcactgttgcc c.*420 . . . . . . g.48138 caggctggcgtgcagtggtgcgatctgggttcactgcaacctccgcctcttgggttcaag c.*480 . . . . . . g.48198 cgattcttctgcttcagcctcccgagtagctgggactacaggcacccaccatcatgtctg c.*540 . . . . . . g.48258 gctaatttttcatttttagtagagacagggttttgccatgttggccaggctggtctcaaa c.*600 . . . . . . g.48318 ctcttgacctcaggtgatccacccacctcagcctcccaaagtgctgggattacaagcgtg c.*660 . . . . . . g.48378 agccactgcaccgggccacagagaaagtacttctccaccctgctctccgaccagacacct c.*720 . . . . . . g.48438 tgacagggcacaccgggcactcagaagacactgatgggcaacccccagcctgctaattcc c.*780 . . . . . . g.48498 ccagattgcaacaggctgggcttcagtggcagctgcttttgtctatgggactcaatgcac c.*840 . . . . . . g.48558 tgacattgttggccaaagccaaagctaggcctggccagatgcaccagcccttagcaggga c.*900 . . . . . . g.48618 aacagctaatgggacactaatggggcggtgagaggggaacagactggaagcacagcttca c.*960 . . . . . . g.48678 tttcctgtgtcttttttcactacattataaatgtctctttaatgtcacaggcaggtccag c.*1020 . . . . . . g.48738 ggtttgagttcataccctgttaccattttggggtacccactgctctggttatctaatatg c.*1080 . . . . g.48786 taacaagccaccccaaatcatagtggcttaaaacaacactcacattta c.*1128 (downstream sequence)Legend:
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