(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:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center