(used for variant description)
(last modified January 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_173167.2 in the UNC45B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering UNC45B transcript NM_173167.2.
(upstream sequence)
. . . g.5037
agactgaggctggctggctggaggttgacacaggagt c.-61
. . . . . . | 02 g.5447
gctcaggggagcagcatcacaagagggcagatcgaaagcatcgtccttgctgaaaaa | cag c.-1
. . . . . . g.5507
ATGGCAGAGGTGGAAGCGGTACAGCTGAAGGAGGAAGGAAACCGGCATTTCCAGCTCCAG c.60
M A E V E A V Q L K E E G N R H F Q L Q p.20
. . . . . . g.5567
GACTACAAGGCCGCCACAAATAGCTACAGCCAGGCCCTGAAGCTGACCAAGGACAAGGCC c.120
D Y K A A T N S Y S Q A L K L T K D K A p.40
. . . . | 03 . g.6168
CTGCTGGCCACGCTTTATCGGAACCGGGCAGCCTGTGGCCTGAAAACG | GAGAGCTACGTC c.180
L L A T L Y R N R A A C G L K T | E S Y V p.60
. . | 04 . . . . g.7266
CAGGCAGCTTCAGATGCCTCCAGAG | CCATCGACATCAACTCCTCGGACATCAAGGCTCTG c.240
Q A A S D A S R A | I D I N S S D I K A L p.80
. . . . . . g.7326
TATCGGCGATGCCAGGCACTGGAGCACCTGGGGAAGCTGGACCAGGCCTTCAAAGACGTG c.300
Y R R C Q A L E H L G K L D Q A F K D V p.100
. . . . . . g.7386
CAGCGTTGTGCCACCCTCGAGCCACGGAACCAGAACTTCCAGGAGATGCTGAGGAGACTC c.360
Q R C A T L E P R N Q N F Q E M L R R L p.120
. . | 05 . . . . g.10115
AACACCAGCATTCAGGAGAAG | CTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAG c.420
N T S I Q E K | L R V Q F S T D S R V Q K p.140
. . . . . | 06 . g.11766
ATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAG | GCTGCCAAC c.480
M F E I L L D E N S E A D K R E K | A A N p.160
. . . . . . g.11826
AATCTCATTGTCCTAGGCCGTGAGGAAGCAGGGGCTGAGAAGATCTTCCAGAACAATGGA c.540
N L I V L G R E E A G A E K I F Q N N G p.180
. . . . . . g.11886
GTAGCCTTGCTACTGCAGCTTCTGGACACTAAGAAGCCTGAGCTGGTGCTGGCTGCAGTG c.600
V A L L L Q L L D T K K P E L V L A A V p.200
. . . | 07 . . g.12500
CGGACCCTGTCGGGCATGTGCAGCGGCCACCAAGCCAGA | GCCACAGTGATTCTGCATGCA c.660
R T L S G M C S G H Q A R | A T V I L H A p.220
. . . . . . g.12560
GTGCGGATAGACCGAATCTGTAGCCTCATGGCCGTGGAGAATGAGGAGATGTCTCTGGCT c.720
V R I D R I C S L M A V E N E E M S L A p.240
. . . . . . g.12620
GTCTGCAACCTGCTCCAAGCCATCATTGACTCCTTGTCTGGGGAGGACAAGCGGGAGCAT c.780
V C N L L Q A I I D S L S G E D K R E H p.260
. . | 08 . . . g.16590
CGAGGGAAGGAGGAGGCCCTGGTTCTAG | ACACCAAGAAGGACCTGAAGCAGATCACCAGC c.840
R G K E E A L V L D | T K K D L K Q I T S p.280
. . . . . . g.16650
CACCTGCTGGACATGCTAGTCAGCAAGAAGGTGTCTGGCCAGGGCAGGGATCAGGCGCTG c.900
H L L D M L V S K K V S G Q G R D Q A L p.300
. . . . . . g.16710
AACCTGCTCAATAAGAATGTTCCCAGGAAGGACCTTGCCATTCATGACAACTCACGTACC c.960
N L L N K N V P R K D L A I H D N S R T p.320
. | 09 . . . . g.21219
ATCTATGTGGTGGATAATG | GTCTGAGGAAGATCCTGAAGGTTGTGGGGCAGGTTCCAGAT c.1020
I Y V V D N G | L R K I L K V V G Q V P D p.340
. . . . . . g.21279
CTGCCATCCTGCCTGCCCCTGACTGACAACACCCGCATGCTGGCCTCTATCCTCATCAAC c.1080
L P S C L P L T D N T R M L A S I L I N p.360
. . . . . . g.21339
AAGCTCTATGATGACCTGCGCTGTGACCCGGAGCGCGATCACTTCCGCAAGATCTGTGAG c.1140
K L Y D D L R C D P E R D H F R K I C E p.380
. | 10 . . . . . g.25293
GAATATATCAC | GGGCAAGTTTGACCCCCAGGACATGGACAAGAACTTGAATGCCATCCAG c.1200
E Y I T | G K F D P Q D M D K N L N A I Q p.400
. . . . . . g.25353
ACAGTGTCAGGGATCCTGCAGGGCCCCTTTGACCTGGGCAACCAGCTGCTGGGACTGAAA c.1260
T V S G I L Q G P F D L G N Q L L G L K p.420
. . . . . . g.25413
GGTGTGATGGAGATGATGGTGGCACTATGTGGCTCAGAGCGCGAGACGGACCAGCTGGTG c.1320
G V M E M M V A L C G S E R E T D Q L V p.440
. . . . . . g.25473
GCCGTGGAGGCCCTCATCCATGCCTCCACGAAGCTCAGCCGCGCCACCTTCATCATCACC c.1380
A V E A L I H A S T K L S R A T F I I T p.460
. . . . . . g.25533
AATGGAGTGTCACTGCTCAAACAGATCTACAAGACCACCAAAAATGAGAAGATCAAGATC c.1440
N G V S L L K Q I Y K T T K N E K I K I p.480
. | 11 . . . . . g.27068
CGCACACTGGTG | GGACTCTGTAAGCTCGGCTCTGCAGGTGGCACAGACTACGGTCTCAGG c.1500
R T L V | G L C K L G S A G G T D Y G L R p.500
. . . . | 12. . g.27310
CAGTTTGCGGAAGGGTCGACAGAAAAACTGGCCAAACAGTGTCGCAA | GTGGCTGTGCAAT c.1560
Q F A E G S T E K L A K Q C R K | W L C N p.520
. . . . . . g.27370
ATGTCCATAGACACTCGGACCCGACGCTGGGCAGTGGAGGGCCTGGCCTACCTCACGCTG c.1620
M S I D T R T R R W A V E G L A Y L T L p.540
. . . . . . g.27430
GACGCTGATGTGAAGGACGACTTTGTCCAGGACGTCCCTGCCCTGCAGGCCATGTTTGAG c.1680
D A D V K D D F V Q D V P A L Q A M F E p.560
. | 13 . . . . . g.28550
CTGGCCAAGGCAGGT | ACCAGTGACAAGACCATCCTGTACTCGGTGGCCACCACCCTGGTG c.1740
L A K A G | T S D K T I L Y S V A T T L V p.580
. . . . . . g.28610
AACTGCACCAACAGCTACGATGTCAAGGAGGTCATCCCAGAGCTTGTCCAGCTCGCCAAG c.1800
N C T N S Y D V K E V I P E L V Q L A K p.600
. . . | 14 . . . g.31449
TTCTCCAAGCAGCATGTGCCCGAGGAACACCCCAAG | GACAAGAAGGACTTTATAGACATG c.1860
F S K Q H V P E E H P K | D K K D F I D M p.620
. . . . . . g.31509
CGGGTGAAGCGGCTTCTGAAGGCGGGTGTCATCTCTGCCCTGGCTTGCATGGTGAAAGCA c.1920
R V K R L L K A G V I S A L A C M V K A p.640
. . . . | 15 . . g.33167
GATAGTGCCATCCTCACTGACCAGACCAAGGAGCTGCTGGCCAG | GGTATTCCTGGCACTG c.1980
D S A I L T D Q T K E L L A R | V F L A L p.660
. . . . . | 16 . g.34209
TGTGACAACCCAAAGGACCGAGGCACCATTGTGGCTCAAGGTGGTGGCAAG | GCCCTGATT c.2040
C D N P K D R G T I V A Q G G G K | A L I p.680
. . . . . . g.34269
CCCCTGGCTTTGGAGGGCACAGATGTGGGCAAGGTGAAGGCAGCCCACGCTCTAGCAAAG c.2100
P L A L E G T D V G K V K A A H A L A K p.700
. . . . | 17 . . g.34693
ATCGCTGCTGTCTCCAATCCGGACATTGCTTTTCCTGGGGAGCGG | GTGTATGAGGTGGTG c.2160
I A A V S N P D I A F P G E R | V Y E V V p.720
. . . . . . g.34753
CGGCCCCTTGTAAGACTCTTGGACACACAGAGGGATGGGCTTCAGAACTATGAGGCTCTC c.2220
R P L V R L L D T Q R D G L Q N Y E A L p.740
. . . . | 18 . . g.37761
CTAGGCCTCACCAACCTGTCTGGGCGGAGTGACAAACTCCG | GCAGAAGATCTTTAAGGAG c.2280
L G L T N L S G R S D K L R | Q K I F K E p.760
. . . . . . g.37821
AGGGCCTTGCCAGACATCGAGAACTACATGTTTGAGAATCATGATCAGCTGCGGCAGGCG c.2340
R A L P D I E N Y M F E N H D Q L R Q A p.780
. . . | 19 . . g.40631
GCCACCGAGTGCATGTGCAACATGGTGCTCCACAAGGAG | GTACAGGAAAGGTTCTTGGCT c.2400
A T E C M C N M V L H K E | V Q E R F L A p.800
. . . . . . g.40691
GACGGGAATGACCGGCTGAAGCTGGTGGTGCTGCTCTGCGGGGAGGATGATGATAAGGTG c.2460
D G N D R L K L V V L L C G E D D D K V p.820
. . . . . . g.40751
CAGAATGCGGCTGCAGGGGCTCTGGCCATGCTGACAGCAGCACACAAGAAACTGTGCCTC c.2520
Q N A A A G A L A M L T A A H K K L C L p.840
. | 20 . . . . . g.43527
AAGATGACTCAAGTG | ACAACCCAGTGGTTGGAGATCCTCCAGCGGCTTTGCCTGCACGAC c.2580
K M T Q V | T T Q W L E I L Q R L C L H D p.860
. . . . . . g.43587
CAGCTGTCTGTCCAACACCGGGGCCTGGTCATTGCCTACAACCTACTGGCAGCCGATGCT c.2640
Q L S V Q H R G L V I A Y N L L A A D A p.880
. . . . . . g.43647
GAGCTGGCCAAGAAGCTGGTGGAGAGTGAGCTGCTGGAGATCCTGACTGTGGTGGGCAAA c.2700
E L A K K L V E S E L L E I L T V V G K p.900
. . . . . . g.43707
CAGGAGCCAGATGAGAAGAAGGCAGAAGTGGTTCAGACAGCCCGAGAATGTCTCATCAAG c.2760
Q E P D E K K A E V V Q T A R E C L I K p.920
. . . g.43743
TGCATGGATTATGGTTTCATTAAACCAGTGTCTTAG c.2796
C M D Y G F I K P V S X p.931
. . . . . . g.43803
acagcgaccctcagggatgctgggagtggtcctgtactgtgcagagtcctgggttggttg c.*60
. . . . . . g.43863
ggttctcctgaagagtcaggtcatctagggatcatagcagtgacaatgaagtctcaatat c.*120
. . . . . . g.43923
aaaggaaagacttgattgttctctgagttgtgagtcttctcctttgtcctgacagagttt c.*180
. . . . . . g.43983
ggatgtttcactctctctcttgcttcctgtctccttatatttgtcatgtttcagaaattc c.*240
. . . . . . g.44043
ccagaataattttcacccatgattagaaataggttggatcattctttctgtacccattct c.*300
. . . . . . g.44103
gaaggccaggataataggttgaagttctttatattttggaaaatggattttgtggtaagg c.*360
. . . . . . g.44163
taggaactaacgggtgtgtgcatataaaggttaatgctgttgtatttggatgctgatctg c.*420
. . . . . . g.44223
tgctgttttcatgacctctctcccacactatttgaatcagtctgttcagaactgtgtgtt c.*480
. . . . . . g.44283
tcacctgcagtgctctgtcccagtcccatgcccattcccatcacttcactgtgatggaaa c.*540
. . . . . . g.44343
tagagtttatgttcaacagtggggcatgacctctgcaatttgcttgggaaagtcttccaa c.*600
. . . . . . g.44403
gcaagatggacatgatgaatacaaataagatctactcaaagtacttcaaacaaaaaataa c.*660
. . . . . . g.44463
ataattcattggctcatgtatcttggccacccagggaaggtctgacattgttagttagat c.*720
. . . . . . g.44523
ccagagtttcaaatgtcatcaccatggatgtgtctttttctctctctcatttcccctccc c.*780
. . . . . . g.44583
catatcttgtcttttatttattataggtttgtctcattccctggcaggctctctccctgt c.*840
. . . . . . g.44643
gataggaaagagagtccccagcagccccagggtgacatagttgttatagttcattatgga c.*900
. . . . . . g.44703
atagaagagagaagagcattctcaataacccggcaaagttcccagggatgactctgatat c.*960
. . . . . . g.44763
gtctatgtctcaggtcacatttccatctatgaaccaatcatattcagaggtggaatgcta c.*1020
. . . . . . g.44823
attggccaggcctgggtcatatatacaagtctagggaagaaatgagcttcatccctgtcc c.*1080
. . . . . . g.44883
aattgacatggactgattaggggtattaatggaagaggtgtgccaccacaaaagaatgta c.*1140
. . . . . . g.44943
ccctgggcagatcaaagaacatattctgtatgtcaggcttggccacaaaagaatgacaca c.*1200
. . . . . . g.45003
agtaatatgctgtagatcagaacctctctgctaatattgcctttttagcatggttaagat c.*1260
. . . . . . g.45063
agctaagatctagtactgtcactccagtatgtcccaattctacctacgtttattgaaggg c.*1320
. . . . . . g.45123
tcaacagttctgatctcagcattgggtaaagggtgggacattcagatttacggtccttga c.*1380
. . . . . . g.45183
taaaaacaatttacaacgttccgttgtgtaataaatgtaagtgtacatatgcctgggaca c.*1440
. . . . . . g.45243
tcagctggaaaagggacagactatcagagagttgcactgttgcggtatgggccaaatcca c.*1500
. . . . . . g.45303
acataatacccgctgtacctctagagaactaaaaccttaatttctcagatcttttctgca c.*1560
. . . . . . g.45363
ctaatggtctttacatacagcctacattttaactaactcttgcatgggcttgtttcacag c.*1620
. . . . . . g.45423
caggaaactatattcatcatatccttattatgatagagaatgacaacattcaaaagggtg c.*1680
. . . . . . g.45483
tggtgcttctgaaaatatacacaataaatggcatgatttgacctctgtcaaattcttctt c.*1740
. . . . . . g.45543
tcctgctttcctcatatgtgggcttgagtgggtgtatttagctcctttaaaggaaactct c.*1800
. . . . . . g.45603
ttcacaggcagggccacactcttactcgttttgatctcatgaggttacatctgccagtgg c.*1860
. . . . . . g.45663
cgttcagggccagttagataaagttcatcttgtttggattggagagactttttttttttt c.*1920
. . . . . . g.45723
tttttttgagacagggtcttgctctgtaacctaggctcaagtgcagtgcagtggtgcagt c.*1980
. . . . . . g.45783
catggctcaccgcagccttggtctcctgggctcaagtgatctttctacttcagcctcctc c.*2040
. . . . . . g.45843
aatagctgggactacaggcacacaccaccacccccaggtaattaaaaaatttttttttgt c.*2100
. . . . . . g.45903
agagacagggtctcactatgttgcccagtctgggagaccacattctttaacatgaatatt c.*2160
. . . . . . g.45963
ttgtaaatagtccaagaagatctagaggaaagctgaattccttcatctgatttttgccac c.*2220
. . . . . . g.46023
tgggctgcctcccattgtctggctaagtcttcatgggaggcctttaagaaaagctgtgac c.*2280
. . . . . . g.46083
aaatacctttgtttcccactgcctaggttacataagtagttggcttttccagcctagact c.*2340
. . . . . . g.46143
cttatattgttgcttgtaagagggcccttctttgcagatttcttttttttttcatctatg c.*2400
. . . . . . g.46203
ctttcaaataggcagatgctagcctgagatcatctctttattgaggtagtttgcccaaaa c.*2460
. . . . . . g.46263
acagcaaggaacagccaatacctgccaactttctaggtttttccaaccaattctcttaca c.*2520
. . . . . . g.46323
gaaaatctataaatatcttagaggtatgtttcttagtttcccaacatataatgggaaaat c.*2580
. . . . . . g.46383
tcatcatttatattattacttttaactgaagtatgttgttatcagagaacttggtctgtg c.*2640
. . . . . . g.46443
tcatattaatcctttgccatttgagaagcatacagttttaaagtttatatctccaaaagg c.*2700
. . . . . . g.46503
atattttgtaaaaatttaacccctttgactcttagtcttctcatttgtgaaaggtaaata c.*2760
. . g.46529
ataaagaatttctgttcctagtaaga c.*2786
(downstream sequence)
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