(used for variant description)
(last modified December 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_024514.4 in the CYP2R1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007936.1, covering CYP2R1 transcript NM_024514.4.
(upstream sequence)
. . . . . . g.60
ATGTGGAAGCTTTGGAGAGCTGAAGAGGGCGCGGCGGCGCTCGGCGGCGCGCTCTTCCTG c.60
M W K L W R A E E G A A A L G G A L F L p.20
. . . . . . g.120
CTGCTCTTCGCGCTAGGGGTCCGCCAGCTGCTGAAGCAGAGGCGGCCGATGGGCTTCCCC c.120
L L F A L G V R Q L L K Q R R P M G F P p.40
. . . . . . g.180
CCGGGGCCGCCGGGGCTGCCATTTATCGGCAACATCTATTCCCTGGCAGCCTCATCCGAG c.180
P G P P G L P F I G N I Y S L A A S S E p.60
. . . . | 02 . . g.6303
CTTCCCCATGTCTACATGAGAAAGCAGAGCCAGGTGTACGGAGAG | ATCTTCAGTTTAGAT c.240
L P H V Y M R K Q S Q V Y G E | I F S L D p.80
. . . . . . g.6363
CTTGGAGGCATATCAACTGTGGTTCTAAATGGCTATGATGTAGTAAAGGAATGCCTTGTT c.300
L G G I S T V V L N G Y D V V K E C L V p.100
. . . . . . g.6423
CATCAAAGCGAAATTTTTGCAGACAGACCATGCCTTCCTTTATTCATGAAGATGACAAAA c.360
H Q S E I F A D R P C L P L F M K M T K p.120
| 03. . . . . . g.11490
ATGGGAG | GCTTACTCAATTCCAGATATGGCCGAGGATGGGTTGATCACAGACGATTAGCT c.420
M G G | L L N S R Y G R G W V D H R R L A p.140
. . . . . . g.11550
GTAAACAGTTTTCGATATTTTGGATATGGCCAAAAGTCTTTTGAATCTAAAATCTTGGAA c.480
V N S F R Y F G Y G Q K S F E S K I L E p.160
. . . . . . g.11610
GAAACCAAATTTTTCAATGATGCTATTGAAACATACAAAGGTAGACCTTTTGACTTTAAA c.540
E T K F F N D A I E T Y K G R P F D F K p.180
. . . . . . g.11670
CAGTTAATAACGAATGCTGTTTCAAACATAACCAATCTGATCATTTTTGGAGAACGATTC c.600
Q L I T N A V S N I T N L I I F G E R F p.200
. . . . . . g.11730
ACTTATGAAGACACCGATTTTCAGCACATGATTGAGTTATTTAGTGAAAATGTGGAACTA c.660
T Y E D T D F Q H M I E L F S E N V E L p.220
. . . . . . g.11790
GCTGCCAGTGCCTCAGTCTTCTTGTATAATGCCTTTCCATGGATTGGCATCCTGCCTTTT c.720
A A S A S V F L Y N A F P W I G I L P F p.240
. . . . . . g.11850
GGAAAACATCAACAGCTGTTTAGAAATGCAGCTGTAGTCTATGATTTTCTCTCCAGACTC c.780
G K H Q Q L F R N A A V V Y D F L S R L p.260
. . . . . . g.11910
ATTGAAAAAGCTTCAGTCAACAGAAAGCCTCAGCTACCTCAGCATTTTGTTGATGCTTAT c.840
I E K A S V N R K P Q L P Q H F V D A Y p.280
. . . . . . g.11970
TTAGATGAGATGGATCAAGGTAAAAATGACCCATCATCTACTTTCTCCAAAGAAAACCTA c.900
L D E M D Q G K N D P S S T F S K E N L p.300
. . . . . . g.12030
ATTTTCTCAGTGGGTGAACTCATCATTGCTGGAACTGAAACTACAACCAATGTGCTACGG c.960
I F S V G E L I I A G T E T T T N V L R p.320
. . . . | 04 . . g.12782
TGGGCGATTCTTTTCATGGCCCTTTATCCTAATATTCAAG | GACAAGTTCAGAAAGAGATT c.1020
W A I L F M A L Y P N I Q G | Q V Q K E I p.340
. . . . . . g.12842
GATTTAATTATGGGCCCTAATGGGAAGCCTTCTTGGGACGACAAATGCAAAATGCCTTAT c.1080
D L I M G P N G K P S W D D K C K M P Y p.360
. . . . . . g.12902
ACTGAGGCAGTTTTGCATGAAGTTTTAAGATTCTGTAATATAGTTCCATTAGGGATTTTC c.1140
T E A V L H E V L R F C N I V P L G I F p.380
. . . . . . g.12962
CATGCAACCTCTGAAGATGCAGTTGTACGTGGTTATTCCATTCCTAAAGGCACAACAGTA c.1200
H A T S E D A V V R G Y S I P K G T T V p.400
. . . . . . g.13022
ATTACAAATCTTTATTCTGTACACTTTGATGAAAAGTACTGGAGAGACCCAGAAGTGTTC c.1260
I T N L Y S V H F D E K Y W R D P E V F p.420
. . . . . . g.13082
CATCCTGAGCGATTTCTGGACAGCAGTGGATATTTTGCCAAGAAGGAAGCTTTGGTTCCT c.1320
H P E R F L D S S G Y F A K K E A L V P p.440
. | 05 . . . . . g.13958
TTTTCCCTAG | GAAGAAGACATTGTCTTGGAGAACACTTGGCTCGGATGGAAATGTTCTTG c.1380
F S L G | R R H C L G E H L A R M E M F L p.460
. . . . . . g.14018
TTTTTTACAGCATTGCTTCAGAGGTTTCATTTGCATTTTCCACATGAACTAGTTCCAGAT c.1440
F F T A L L Q R F H L H F P H E L V P D p.480
. . . . . . g.14078
CTGAAGCCCAGGTTAGGCATGACATTGCAGCCCCAACCCTACCTCATCTGTGCTGAAAGA c.1500
L K P R L G M T L Q P Q P Y L I C A E R p.500
g.14084
CGCTGA c.1506
R X p.501
. . . . . . g.14144
aactgcctgggatgttttcgggaacaagaatgtatatttgccttatccctgaacttggtt c.*60
. . . . . g.14197
taatcaaatcaatgtgtgtattagaataaaagtcacagcatcaaaaagccaaa c.*113
(downstream sequence)
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