(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001023570.2 in the IQCB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015887.1, covering IQCB1 transcript NM_001023570.2.
(upstream sequence)
. . . g.5035
cgcctccaggccccttcccgcgtcgcgacgcacgc c.-181
. . . . . . g.5095
tgccccggaaggccgcggcgctgtagtgcggcgtgggagccccaggttctttagtggaag c.-121
. . | 02 . . . g.5641
aacgcgaagcgaggatgag | tgatccgtggaggcagtaacaggcgcggcgagggagaagtg c.-61
. . . . . | 03. g.11119
attcccgaagaatcaaggctgggccggacccggtggcctggcaacagg | gtaataagagaa c.-1
. . . . . . g.11179
ATGAAGCCAACAGGTACAGACCCAAGGATCTTATCTATAGCTGCTGAAGTTGCAAAAAGC c.60
M K P T G T D P R I L S I A A E V A K S p.20
. . . . | 04 . . g.11467
CCTGAGCAGAATGTCCCTGTTATACTGTTGAAGTTAAAAG | AAATAATAAACATCACACCT c.120
P E Q N V P V I L L K L K E | I I N I T P p.40
. . . . . . g.11527
TTAGGAAGCTCAGAGTTGAAGAAAATCAAACAAGATATATATTGTTATGATCTCATTCAA c.180
L G S S E L K K I K Q D I Y C Y D L I Q p.60
. . . . . . g.11587
TATTGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATT c.240
Y C L L V L S Q D Y S R I Q G G W T T I p.80
. . | 05 . . . . g.13936
TCCCAGCTTACACAGATATTAAG | CCATTGCTGTGTGGGCTTGGAGCCAGGAGAAGATGCA c.300
S Q L T Q I L S | H C C V G L E P G E D A p.100
. . . . . . g.13996
GAGGAATTTTACAATGAATTACTTCCATCAGCTGCAGAAAATTTTCTAGTTTTGGGGAGA c.360
E E F Y N E L L P S A A E N F L V L G R p.120
. . . | 06 . . . g.31097
CAATTACAAACATGTTTTATCAATGCAGCTAAG | GCTGAAGAAAAAGATGAATTACTACAC c.420
Q L Q T C F I N A A K | A E E K D E L L H p.140
. . . . . . g.31157
TTTTTCCAAATTGTGACTGATTCTCTCTTCTGGCTTTTGGGAGGCCATGTTGAACTTATT c.480
F F Q I V T D S L F W L L G G H V E L I p.160
| 07. . . . . . g.32689
CAGAATG | TACTACAAAGTGATCATTTCTTACATTTACTGCAAGCTGACAATGTCCAAATA c.540
Q N V | L Q S D H F L H L L Q A D N V Q I p.180
. . . . | 08. . g.40718
GGATCTGCAGTCATGATGATGCTACAGAATATACTACAGATCAACAG | TGGTGATTTACTC c.600
G S A V M M M L Q N I L Q I N S | G D L L p.200
. . . . . . g.40778
AGAATAGGAAGAAAAGCCCTGTATTCAATTTTAGATGAAGTTATTTTCAAGCTTTTTTCA c.660
R I G R K A L Y S I L D E V I F K L F S p.220
. . . . . . g.40838
ACTCCTAGTCCAGTTATAAGAAGTACTGCTACAAAACTCCTACTGTTGATGGCTGAATCC c.720
T P S P V I R S T A T K L L L L M A E S p.240
. . . . | 09 . . g.42866
CATCAGGAAATTTTGATTTTACTGAGACAAAGTACCTGCTACAAAG | GACTCAGACGTCTA c.780
H Q E I L I L L R Q S T C Y K G | L R R L p.260
. . . . . . g.42926
CTAAGTAAACAGGAAACTGGGACTGAATTCAGTCAAGAACTTAGACAGCTTGTTGGCCTT c.840
L S K Q E T G T E F S Q E L R Q L V G L p.280
. . . | 10 . . . g.44537
TTAAGCCCAATGGTCTATCAGGAAGTAGAAGAGCAG | AAACTACATCAAGCAGCATGCTTG c.900
L S P M V Y Q E V E E Q | K L H Q A A C L p.300
. . . . . . g.44597
ATTCAAGCCTATTGGAAGGGTTTTCAGACAAGAAAGAGATTAAAGAAGCTTCCATCTGCT c.960
I Q A Y W K G F Q T R K R L K K L P S A p.320
. . | 11 . . . . g.49898
GTGATTGCTTTGCAGAGGAGTTTCAG | ATCCAAACGATCAAAGATGTTGCTGGAGATAAAT c.1020
V I A L Q R S F R | S K R S K M L L E I N p.340
. . . . . . g.49958
AGGCAGAAGGAAGAAGAGGACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATG c.1080
R Q K E E E D L K L Q L Q L Q R Q R A M p.360
. . . . | 12 . g.51658
AGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAGTTCATCCAG | GTCAGGTGGAG c.1140
R L S R E L Q L S M L E I V H P G | Q V E p.380
. . . . . . g.51718
AAACACTATCGGGAAATGGAAGAGAAATCAGCACTGATTATCCAGAAACATTGGAGAGGG c.1200
K H Y R E M E E K S A L I I Q K H W R G p.400
. . . . . . g.51778
TACAGGGAAAGGAAAAATTTTCACCAACAGAGGCAGTCTCTCATAGAGTATAAAGCAGCT c.1260
Y R E R K N F H Q Q R Q S L I E Y K A A p.420
. | 13 . . . . g.58247
GTCACACTTCAAAGAGCA | GCGCTTAAATTCCTAGCGAAGTGCCGTAAGAAAAAGAAACTA c.1320
V T L Q R A | A L K F L A K C R K K K K L p.440
. . . . . . g.58307
TTTGCTCCTTGGCGAGGACTCCAAGAACTCACTGATGCACGCCGAGTTGAACTGAAGAAA c.1380
F A P W R G L Q E L T D A R R V E L K K p.460
. . . | 14 . . . g.67396
CGAGTGGATGACTATGTCAGAAGACATTTG | GGCTCTCCAATGTCAGATGTGGTCAGTAGG c.1440
R V D D Y V R R H L | G S P M S D V V S R p.480
. . . . . . g.67456
GAGCTCCATGCCCAAGCTCAAGAACGACTGCAACACTACTTTATGGGCAGGGCCCTAGAA c.1500
E L H A Q A Q E R L Q H Y F M G R A L E p.500
. . . . . . g.67516
GAGCGAGCCCAGCAGCACAGAGAAGCTCTGATAGCACAGATCAGCACCAACGTTGAACAG c.1560
E R A Q Q H R E A L I A Q I S T N V E Q p.520
| 15. . . . . . g.69558
CTAATGA | AGGCACCAAGTCTGAAGGAGGCAGAAGGGAAAGAACCTGAGCTCTTCCTAAGT c.1620
L M K | A P S L K E A E G K E P E L F L S p.540
. . . . . . g.69618
AGATCCAGGCCTGTGGCAGCCAAGGCCAAGCAGGCCCATCTCACAACCCTGAAGCACATA c.1680
R S R P V A A K A K Q A H L T T L K H I p.560
. . . . . . g.69678
CAAGCACCCTGGTGGAAGAAGCTTGGAGAAGAATCTGGAGATGAGATTGATGTTCCAAAG c.1740
Q A P W W K K L G E E S G D E I D V P K p.580
. . . . . g.69735
GATGAGCTTAGTATAGAATTAGAAAATTTATTCATTGGTGGAACCAAACCACCTTAG c.1797
D E L S I E L E N L F I G G T K P P X p.598
. . . . . . g.69795
tgagtaaccctaagaattgacacaaatctcatattttaggagattatattggttctgcct c.*60
. . . . . . g.69855
ctggcatgctggtagactagggccatcctaacttattattttccagaggttctcctccag c.*120
. . . . . . g.69915
acaagacctgcagtaagcaaagagttatattctacctctctctcaattttctttttcttt c.*180
. . . . . . g.69975
tctctgtatcctcatcgttagccacacacagatttgtgtggcttttattgtagaactaaa c.*240
. . . . . . g.70035
cttagcatagtgttctgttgtttacatgaagtgtgtttttctttggtttcttctgttttc c.*300
. . . . . . g.70095
caactaaatatttttttctaaataaatattttcaacaattgatttgaaaaatttgtcagg c.*360
. . . . . . g.70155
attatttcaacttttcacatttgttatctgaaattcctatttcctgttaacataggaggt c.*420
. . . . . . g.70215
gtgtgcagactttattaatgtgaggaaaagaaatgctcaattgaaggacatttccctgtt c.*480
. . . . . . g.70275
ttctataaagcaatggttgaactcattttctattttgttatttctaaaaggaactgcata c.*540
. . . . g.70317
ccaaaaaaatgcattctttctattaaactgtgagaactacat c.*582
(downstream sequence)
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