(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000180.3 in the GUCY2D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009092.1, covering GUCY2D transcript NM_000180.3.
(upstream sequence)
. g.5014
caaaagggggaccg c.-61
. . . . . . | 02 g.5378
gccctgtgacccctcaccgggggccgtgggcccgagcccccggacttccct | aagccggca c.-1
. . . . . . g.5438
ATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCG c.60
M T A C A R R A G G L P D P G L C G P A p.20
. . . . . . g.5498
TGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTG c.120
W W A P S L P R L P R A L P R L P L L L p.40
. . . . . . g.5558
CTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGC c.180
L L L L L Q P P A L S A V F T V G V L G p.60
. . . . . . g.5618
CCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCC c.240
P W A C D P I F S R A R P D L A A R L A p.80
. . . . . . g.5678
GCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTG c.300
A A R L N R D P G L A G G P R F E V A L p.100
. . . . . . g.5738
CTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGC c.360
L P E P C R T P G S L G A V S S A L A R p.120
. . . . . . g.5798
GTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCC c.420
V S G L V G P V N P A A C R P A E L L A p.140
. . . . . . g.5858
GAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACC c.480
E E A G I A L V P W G C P W T Q A E G T p.160
. . . . . . g.5918
ACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGC c.540
T A P A V T P A A D A L Y A L L R A F G p.180
. . . . . . g.5978
TGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCA c.600
W A R V A L V T A P Q D L W V E A G R S p.200
. . . . . . g.6038
CTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCC c.660
L S T A L R A R G L P V A S V T S M E P p.220
. . . . . . g.6098
TTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACA c.720
L D L S G A R E A L R K V R D G P R V T p.240
| 03 . . . . . . g.6241
G | CAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTG c.780
A | V I M V M H S V L L G G E E Q R Y L L p.260
. . . . . . g.6301
GAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACG c.840
E A A E E L G L T D G S L V F L P F D T p.280
. . . . . . g.6361
ATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAG c.900
I H Y A L S P G P E A L A A L A N S S Q p.300
. . . . . . g.6421
CTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGC c.960
L R R A H D A V L T L T R H C P S E G S p.320
. . . . . . g.6481
GTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTG c.1020
V L D S L R R A Q E R R E L P S D L N L p.340
| 04 . . . . . . g.8747
CAGCAG | GTCTCCCCACTCTTTGGCACCATCTATGACGCGGTCTTCTTGCTGGCAAGGGGC c.1080
Q Q | V S P L F G T I Y D A V F L L A R G p.360
. . . . . . g.8807
GTGGCAGAAGCGCGGGCTGCCGCAGGTGGCAGATGGGTGTCCGGAGCAGCTGTGGCCCGC c.1140
V A E A R A A A G G R W V S G A A V A R p.380
. . . . . . g.8867
CACATCCGGGATGCGCAGGTCCCTGGCTTCTGCGGGGACCTAGGAGGAGACGAGGAGCCC c.1200
H I R D A Q V P G F C G D L G G D E E P p.400
. . . . . . g.8927
CCATTCGTGCTGCTAGACACGGACGCGGCGGGAGACCGGCTTTTTGCCACATACATGCTG c.1260
P F V L L D T D A A G D R L F A T Y M L p.420
. . . . . . g.8987
GATCCTGCCCGGGGCTCCTTCCTCTCCGCCGGTACCCGGATGCACTTCCCGCGTGGGGGA c.1320
D P A R G S F L S A G T R M H F P R G G p.440
. . . . . | 05 g.9392
TCAGCACCCGGACCTGACCCCTCGTGCTGGTTCGATCCAAACAACATCTGCGGTGGAG | GA c.1380
S A P G P D P S C W F D P N N I C G G G | p.460
. . . . . . g.9452
CTGGAGCCGGGCCTCGTCTTTCTTGGCTTCCTCCTGGTGGTTGGGATGGGGCTGGCTGGG c.1440
L E P G L V F L G F L L V V G M G L A G p.480
. . | 06 . . . . g.9793
GCCTTCCTGGCCCATTATGTGAG | GCACCGGCTACTTCACATGCAAATGGTCTCCGGCCCC c.1500
A F L A H Y V R | H R L L H M Q M V S G P p.500
. . . . . . g.9853
AACAAGATCATCCTGACCGTGGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCT c.1560
N K I I L T V D D I T F L H P H G G T S p.520
| 07 . . . . . . g.10315
CGAAAG | GTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGC c.1620
R K | V A Q G S R S S L G A R S M S D I R p.540
. . . . | 08 . g.11848
AGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAG | GGAGACAGGGTT c.1680
S G P S Q H L D S P N I G V Y E | G D R V p.560
. . . . . . g.11908
TGGCTGAAGAAATTCCCAGGGGATCAGCACATAGCTATCCGCCCAGCAACCAAGACGGCC c.1740
W L K K F P G D Q H I A I R P A T K T A p.580
| 09 . . . . . g.14525
TTCTCCAAG | CTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTG c.1800
F S K | L Q E L R H E N V A L Y L G L F L p.600
. . . . . . g.14585
GCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAG c.1860
A R G A E G P A A L W E G N L A V V S E p.620
. . . . . . g.14645
CACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGG c.1920
H C T R G S L Q D L L A Q R E I K L D W p.640
. . . | 10 . . . g.14804
ATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAG | GGAATAAGGTATCTGCACCATCGA c.1980
M F K S S L L L D L I K | G I R Y L H H R p.660
. . . . . . g.14864
GGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTC c.2040
G V A H G R L K S R N C I V D G R F V L p.680
. . . . . . g.14924
AAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCT c.2100
K I T D H G H G R L L E A Q K V L P E P p.700
. | 11 . . . . . g.15480
CCCAGAGCGGAGG | ACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAG c.2160
P R A E D | Q L W T A P E L L R D P A L E p.720
. . . . . . g.15540
CGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTG c.2220
R R G T L A G D V F S L A I I M Q E V V p.740
. . . . | 12 . . g.16227
TGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGG | AAGTGGTGCAGAGGGTG c.2280
C R S A P Y A M L E L T P E E | V V Q R V p.760
. . . . . . g.16287
CGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGT c.2340
R S P P P L C R P L V S M D Q A P V E C p.780
. . . . . . g.16347
ATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCAC c.2400
I L L M K Q C W A E Q P E L R P S M D H p.800
. | 13 . . . . . g.16979
ACCTTCGACCTG | TTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATG c.2460
T F D L | F K N I N K G R K T N I I D S M p.820
. . . . . . g.17039
CTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAG c.2520
L R M L E Q Y S S N L E D L I R E R T E p.840
. . . . . | 14 . g.17193
GAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCC | GTCT c.2580
E L E L E K Q K T D R L L T Q M L P P | S p.860
. . . . . . g.17253
GTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACA c.2640
V A E A L K T G T P V E P E Y F E Q V T p.880
. . . . . . g.17313
CTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAG c.2700
L Y F S D I V G F T T I S A M S E P I E p.900
. . . . . . g.17373
GTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGAT c.2760
V V D L L N D L Y T L F D A I I G S H D p.920
| 15 . . . . . g.17709
GTCTACAAG | GTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGG c.2820
V Y K | V E T I G D A Y M V A S G L P Q R p.940
. . . . . . g.17769
AATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTG c.2880
N G Q R H A A E I A N M S L D I L S A V p.960
. . . . . . g.17829
GGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCAC c.2940
G T F R M R H M P E V P V R I R I G L H p.980
| 16 . . . . . . g.18129
TCGG | GTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGG c.3000
S G | P C V A G V V G L T M P R Y C L F G p.1000
. . . . | 17 . . g.18274
GACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGC | CTTACCGCATCCACGTG c.3060
D T V N T A S R M E S T G L P | Y R I H V p.1020
. . . . . . g.18334
AACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGA c.3120
N L S T V G I L R A L D S G Y Q V E L R p.1040
. | 18 . . . . g.18577
GGCCGCACGGAGCTGAAG | GGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGC c.3180
G R T E L K | G K G A E D T F W L V G R R p.1060
. . . . | 19 . . g.18789
GGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGG | GTCCAGCAACCACGGC c.3240
G F N K P I P K P P D L Q P G | S S N H G p.1080
. . . . . . g.18849
ATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGC c.3300
I S L Q E I P P E R R R K L E K A R P G p.1100
. g.18861
CAGTTCTCTTGA | c.3313
Q F S X p.1103
. . | 20 . . . . g.22494
gaagtgaggcccggccccggacag | ggtctgggccctgctccctgtcccatctgcagtgga c.*60
. . . . . . g.22554
ccccaggcacccccctttgaggaggtggggtgaactgctccttggcagggatttgtgaca c.*120
. . . . . . g.22614
ctgcattgctgggctgtgttcctcgggctcttctggaccttgcaccgtggataccaggcc c.*180
. . . . . g.22671
atgtgccatggtatttgggtcctgggagggtgggtgaaataaaggcatgctgtcttc c.*237
(downstream sequence)
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