(used for variant description)
(last modified January 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_021831.5 in the AGBL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052914.1, covering AGBL5 transcript NM_021831.5.
(upstream sequence)
. . . g.5037
agctgcagccacggccaataggcgagagacttcttgt c.-181
. . . . . . g.5097
ttcctggcagagcggggtcccggcaccgcggcgctcgggtgtttttgggggcccgggtgg c.-121
. . . . . . g.5157
agggcccgggtgccggggcccaaggtgcggcctcgctagcgggagagggagcgggatcac c.-61
. . | 02 . . . . g.6336
cggcccggagagag | ctctcagggccagagcggggcaggaggatgctttcccagccccacc c.-1
. . . . . . g.6396
ATGGAGCTGCGCTGTGGGGGATTGCTGTTCAGTTCTCGCTTTGATTCAGGGAATCTAGCC c.60
M E L R C G G L L F S S R F D S G N L A p.20
. . . . . . g.6456
CACGTGGAGAAGGTGGAATCTTTGTCCAGTGATGGGGAAGGGGTAGGAGGTGGGGCGTCA c.120
H V E K V E S L S S D G E G V G G G A S p.40
. . . . . . g.6516
GCCCTGACCAGTGGCATTGCCTCTTCCCCTGACTATGAATTCAACGTGTGGACCCGACCA c.180
A L T S G I A S S P D Y E F N V W T R P p.60
. . . | 03 . . . g.6804
GACTGTGCTGAAACGGAATTTGAGAATGGGAACAG | GTCATGGTTCTACTTCAGCGTCCGG c.240
D C A E T E F E N G N R | S W F Y F S V R p.80
. . . . . . g.6864
GGAGGAATGCCAGGAAAACTCATCAAGATCAACATTATGAACATGAACAAGCAGAGCAAG c.300
G G M P G K L I K I N I M N M N K Q S K p.100
. . . . . . g.6924
CTGTATTCCCAGGGCATGGCCCCCTTTGTGCGCACACTGCCCACCCGGCCACGCTGGGAA c.360
L Y S Q G M A P F V R T L P T R P R W E p.120
. . | 04. . . . g.7306
CGCATTCGAGACCGGCCCACCTTTGAG | ATGACAGAGACGCAGTTTGTGTTATCCTTTGTT c.420
R I R D R P T F E | M T E T Q F V L S F V p.140
. . . . . . g.7366
CATCGTTTCGTGGAGGGCCGTGGGGCCACCACCTTCTTCGCCTTCTGCTACCCCTTCTCC c.480
H R F V E G R G A T T F F A F C Y P F S p.160
. . . . . . g.7426
TACAGTGACTGCCAGGAACTGCTAAACCAGCTAGACCAGCGCTTTCCGGAGAACCACCCT c.540
Y S D C Q E L L N Q L D Q R F P E N H P p.180
. | 05 . . . . . g.8056
ACCCATAGCAG | CCCCCTGGATACCATCTATTACCATCGGGAGCTCCTTTGCTATTCTCTG c.600
T H S S | P L D T I Y Y H R E L L C Y S L p.200
. . . . . . g.8116
GATGGACTTCGTGTAGATCTGCTGACGATCACTTCCTGCCATGGGCTTCGAGAAGATCGA c.660
D G L R V D L L T I T S C H G L R E D R p.220
. . . . . . g.8176
GAGCCCCGTCTAGAGCAGCTATTTCCTGATACCAGCACCCCTCGACCATTCCGTTTCGCA c.720
E P R L E Q L F P D T S T P R P F R F A p.240
| 06 . . . . . g.8503
GGCAAGAGG | ATATTCTTCTTAAGCAGTAGAGTACACCCAGGGGAGACTCCATCTAGCTTT c.780
G K R | I F F L S S R V H P G E T P S S F p.260
. . . . . . g.8563
GTCTTCAATGGCTTTCTGGACTTCATCCTCCGACCTGATGATCCCCGGGCCCAAACCCTC c.840
V F N G F L D F I L R P D D P R A Q T L p.280
. . . . . . g.8623
CGTCGCCTCTTCGTCTTTAAGCTGATTCCCATGTTGAACCCCGATGGTGTGGTCCGGGGA c.900
R R L F V F K L I P M L N P D G V V R G p.300
| 07 . . . . . g.9111
CACTACCG | CACAGACTCACGTGGAGTGAATCTGAACCGTCAGTACCTGAAGCCTGATGCC c.960
H Y R | T D S R G V N L N R Q Y L K P D A p.320
. . . . . . g.9171
GTCCTGCACCCGGCCATCTATGGGGCCAAAGCTGTGCTTCTCTACCACCATGTGCACTCT c.1020
V L H P A I Y G A K A V L L Y H H V H S p.340
. . . . . . g.9231
CGTCTGAACTCCCAGAGTTCCTCTGAGCACCAGCCCAGTTCCTGTCTCCCTCCTGATGCT c.1080
R L N S Q S S S E H Q P S S C L P P D A p.360
. . . . . . g.9291
CCTGTTTCTGACCTGGAGAAAGCCAACAATCTCCAAAATGAAGCTCAGTGTGGGCACTCA c.1140
P V S D L E K A N N L Q N E A Q C G H S p.380
. . . . . . g.9351
GCTGACAGGCATAACGCTGAAGCCTGGAAACAAACAGAGCCAGCAGAACAGAAGCTCAAC c.1200
A D R H N A E A W K Q T E P A E Q K L N p.400
. . . . . . g.9411
AGTGTGTGGATTATGCCACAACAGTCTGCGGGGCTTGAAGAGTCAGCCCCTGATACCATC c.1260
S V W I M P Q Q S A G L E E S A P D T I p.420
. . . . . . g.9471
CCCCCCAAAGAGAGTGGCGTTGCTTACTATGTGGACCTGCATGGACATGCTTCCAAAAGG c.1320
P P K E S G V A Y Y V D L H G H A S K R p.440
. . . . | 08 . . g.10015
GGCTGCTTCATGTACGGAAACAGCTTTAGTGATGAGAGCACCCAG | GTGGAAAACATGCTA c.1380
G C F M Y G N S F S D E S T Q | V E N M L p.460
. . . . . . g.10075
TATCCAAAGCTCATCTCCTTGAATTCAGCCCACTTCGACTTCCAGGGCTGCAATTTCTCA c.1440
Y P K L I S L N S A H F D F Q G C N F S p.480
. . . . . . g.10135
GAGAAGAATATGTATGCCCGAGACCGTAGAGATGGCCAGTCTAAAGAGGGAAGCGGCCGT c.1500
E K N M Y A R D R R D G Q S K E G S G R p.500
. . . | 09 . . . g.10705
GTTGCAATCTACAAAGCCTCAGGGATAATCCACAG | CTACACACTTGAATGCAACTACAAC c.1560
V A I Y K A S G I I H S | Y T L E C N Y N p.520
. . . . . . g.10765
ACTGGACGCTCAGTAAACAGCATCCCTGCTGCCTGCCATGACAATGGGCGTGCCAGCCCC c.1620
T G R S V N S I P A A C H D N G R A S P p.540
. . . . . | 10 . g.11786
CCTCCCCCGCCGGCTTTCCCCTCCAGATACACTGTGGAACTATTTGAGCAG | GTGGGACGA c.1680
P P P P A F P S R Y T V E L F E Q | V G R p.560
. . . . . . g.11846
GCTATGGCCATTGCAGCCCTGGACATGGCGGAATGTAATCCGTGGCCCCGAATTGTACTG c.1740
A M A I A A L D M A E C N P W P R I V L p.580
. . . . . . g.11906
TCAGAGCACAGCAGCCTTACTAATCTACGGGCCTGGATGCTGAAACATGTACGCAACAGC c.1800
S E H S S L T N L R A W M L K H V R N S p.600
. . . . . . g.11966
CGAGGCCTAAGCAGCACTCTGAATGTGGGTGTCAACAAGAAGAGGGGCCTTCGAACTCCA c.1860
R G L S S T L N V G V N K K R G L R T P p.620
. | 11 . . . . . g.12613
CCCAAAAGTCACAA | TGGGTTGCCTGTCTCCTGCTCCGAAAACACCTTGAGTCGGGCACGA c.1920
P K S H N | G L P V S C S E N T L S R A R p.640
. . . . . . g.12673
AGTTTTAGCACCGGCACAAGTGCCGGTGGTAGCAGCAGCAGCCAACAAAATTCTCCACAG c.1980
S F S T G T S A G G S S S S Q Q N S P Q p.660
. . . . . . g.12733
ATGAAGAATTCCCCCAGCTTTCCTTTTCATGGCAGTCGGCCTGCAGGGCTGCCAGGCCTG c.2040
M K N S P S F P F H G S R P A G L P G L p.680
. . . . | 12 . g.20882
GGCTCTAGTACCCAAAAGGTCACCCACCGGGTGCTGGGCCCCGTCAGAG | AGCCCCGAAGC c.2100
G S S T Q K V T H R V L G P V R E | P R S p.700
. . . . . . g.20942
CAGGACAGGAGACGGCAGCAGCAGCCCCTGAACCATCGTCCTGCAGGCAGCCTCGCTCCA c.2160
Q D R R R Q Q Q P L N H R P A G S L A P p.720
. . . . . . g.21002
TCCCCAGCTCCTACTAGTTCTGGCCCAGCCTCCTCACACAAGCTGGGCTCCTGTCTACTG c.2220
S P A P T S S G P A S S H K L G S C L L p.740
. . | 13 . . . . g.22047
CCTGATTCATTCAACATACCAG | GGAGCAGTTGCTCACTCTTGTCCTCTGGAGACAAACCA c.2280
P D S F N I P G | S S C S L L S S G D K P p.760
. . . . . . g.22107
GAGGCTGTCATGGTAATCGGGAAAGGTCTGCTAGGGACTGGAGCTCGGATGCCCTGCATC c.2340
E A V M V I G K G L L G T G A R M P C I p.780
. | 14 . . . . . g.22995
AAGACTCGATTGCAG | GCTAGGCCCAGGTTGGGCCGGGGCTCACCGCCGACTCGCAGAGGG c.2400
K T R L Q | A R P R L G R G S P P T R R G p.800
. . . . . . g.23055
ATGAAAGGCTCTTCAGGCCCCACATCCCCTACCCCCCGGACCAGGGAGAGCAGTGAGCTG c.2460
M K G S S G P T S P T P R T R E S S E L p.820
. . | 15 . . . g.23500
GAGCTGGGATCCTGCTCTGCTACACCAGG | GCTGCCTCAGGCCAGGCCCCCACGGCCCCGC c.2520
E L G S C S A T P G | L P Q A R P P R P R p.840
. . . . . . g.23560
TCTGCCCCTGCCTTTTCTCCTATATCCTGTAGTCTATCTGACTCCCCATCCTGGAATTGT c.2580
S A P A F S P I S C S L S D S P S W N C p.860
. . . . . . g.23620
TACAGCAGGGGTCCCTTGGGCCAACCTGAGGTTTGTTTTGTCCCTAAATCTCCCCCACTG c.2640
Y S R G P L G Q P E V C F V P K S P P L p.880
. . g.23641
ACTGTTTCTCCCCGGGTCTGA c.2661
T V S P R V X p.886
. . . . . . g.23701
taatgcctttatgttcaagcccaggatatagccccaagatggggtaacagtgggaaatat c.*60
. . . . . . g.23761
gctagttcccctccaggccgctgattccatgtgacagccgttaagtccttggaatgccag c.*120
. . . . . . g.23821
ccacgctgtccaaggcattacagagtatcaccttgagacagaacaaaacagggacctgcc c.*180
. . . . . . g.23881
accccttccctccctccgcagcacaagattttgggaccacaaaaaaaagtctatattttt c.*240
. . . . . . g.23941
atattggggggagggagtagaaaagcaagcccctatactgggccctattcagtggcagct c.*300
. . . . . g.24000
tcttgttccataggattaaggaagactctgaggaaataaaagttgtttggaaaaatcca c.*359
(downstream sequence)
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