(used for variant description)
(last modified July 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021870.2 in the FGG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008834.1, covering FGG transcript NM_021870.2.
(upstream sequence)
. . g.5021
cttctggtaaggaggccccgt c.-121
. . . . . . g.5081
gatcagctccagccatttgcagtcctggctatcccaggagcttacataaagggacaattg c.-61
. . . . . . g.5141
gagcctgagaggtgacagtgctgacactacaaggctcggagctccgggcactcagacatc c.-1
. . . . . . g.5201
ATGAGTTGGTCCTTGCACCCCCGGAATTTAATTCTCTACTTCTATGCTCTTTTATTTCTC c.60
M S W S L H P R N L I L Y F Y A L L F L p.20
. | 02 . . . . g.5357
TCTTCAACATGTGTAGCA | TATGTTGCTACCAGAGACAACTGCTGCATCTTAGATGAAAGA c.120
S S T C V A | Y V A T R D N C C I L D E R p.40
| 03 . . . . . . g.5606
TTC | GGTAGTTATTGTCCAACTACCTGTGGCATTGCAGATTTCCTGTCTACTTATCAAACC c.180
F | G S Y C P T T C G I A D F L S T Y Q T p.60
. . . . . . g.5666
AAAGTAGACAAGGATCTACAGTCTTTGGAAGACATCTTACATCAAGTTGAAAACAAAACA c.240
K V D K D L Q S L E D I L H Q V E N K T p.80
. . . . . . g.5726
TCAGAAGTCAAACAGCTGATAAAAGCAATCCAACTCACTTATAATCCTGATGAATCATCA c.300
S E V K Q L I K A I Q L T Y N P D E S S p.100
| 04. . . . . . g.5905
AAACCAA | ATATGATAGACGCTGCTACTTTGAAGTCCAGGAAAATGTTAGAAGAAATTATG c.360
K P N | M I D A A T L K S R K M L E E I M p.120
. . . . | 05 . . g.7572
AAATATGAAGCATCGATTTTAACACATGACTCAAGTATTCG | ATATTTGCAGGAAATATAT c.420
K Y E A S I L T H D S S I R | Y L Q E I Y p.140
. . . . . . g.7632
AATTCAAATAATCAAAAGATTGTTAACCTGAAAGAGAAGGTAGCCCAGCTTGAAGCACAG c.480
N S N N Q K I V N L K E K V A Q L E A Q p.160
. . . . . | 06 . g.7995
TGCCAGGAACCTTGCAAAGACACGGTGCAAATCCATGATATCACTGGGAAAG | ATTGTCAA c.540
C Q E P C K D T V Q I H D I T G K D | C Q p.180
. . . . . . g.8055
GACATTGCCAATAAGGGAGCTAAACAGAGCGGGCTTTACTTTATTAAACCTCTGAAAGCT c.600
D I A N K G A K Q S G L Y F I K P L K A p.200
. . . . . . g.8115
AACCAGCAATTCTTAGTCTACTGTGAAATCGATGGGTCTGGAAATGGATGGACTGTGTTT c.660
N Q Q F L V Y C E I D G S G N G W T V F p.220
| 07 . . . . . . g.9154
CAGAAG | AGACTTGATGGCAGTGTAGATTTCAAGAAAAACTGGATTCAATATAAAGAAGGA c.720
Q K | R L D G S V D F K K N W I Q Y K E G p.240
. . . . . . g.9214
TTTGGACATCTGTCTCCTACTGGCACAACAGAATTTTGGCTGGGAAATGAGAAGATTCAT c.780
F G H L S P T G T T E F W L G N E K I H p.260
. . . . . . g.9274
TTGATAAGCACACAGTCTGCCATCCCATATGCATTAAGAGTGGAACTGGAAGACTGGAAT c.840
L I S T Q S A I P Y A L R V E L E D W N p.280
. | 08 . . . . . g.10817
GGCAGAACCAG | TACTGCAGACTATGCCATGTTCAAGGTGGGACCTGAAGCTGACAAGTAC c.900
G R T S | T A D Y A M F K V G P E A D K Y p.300
. . . . . . g.10877
CGCCTAACATATGCCTACTTCGCTGGTGGGGATGCTGGAGATGCCTTTGATGGCTTTGAT c.960
R L T Y A Y F A G G D A G D A F D G F D p.320
. . . . . . g.10937
TTTGGCGATGATCCTAGTGACAAGTTTTTCACATCCCATAATGGCATGCAGTTCAGTACC c.1020
F G D D P S D K F F T S H N G M Q F S T p.340
. . . . . . g.10997
TGGGACAATGACAATGATAAGTTTGAAGGCAACTGTGCTGAACAGGATGGATCTGGTTGG c.1080
W D N D N D K F E G N C A E Q D G S G W p.360
. . . . | 09 . g.12695
TGGATGAACAAGTGTCACGCTGGCCATCTCAATGGAGTTTATTACCAAG | GTGGCACTTAC c.1140
W M N K C H A G H L N G V Y Y Q G | G T Y p.380
. . . . . . g.12755
TCAAAAGCATCTACTCCTAATGGTTATGATAATGGCATTATTTGGGCCACTTGGAAAACC c.1200
S K A S T P N G Y D N G I I W A T W K T p.400
. . . . . . g.12815
CGGTGGTATTCCATGAAGAAAACCACTATGAAGATAATCCCATTCAACAGACTCACAATT c.1260
R W Y S M K K T T M K I I P F N R L T I p.420
. . . . . . g.12875
GGAGAAGGACAGCAACACCACCTGGGGGGAGCCAAACAGGTCAGACCAGAGCACCCTGCG c.1320
G E G Q Q H H L G G A K Q V R P E H P A p.440
. . . . g.12917
GAAACAGAATATGACTCACTTTACCCTGAGGATGATTTGTAG c.1362
E T E Y D S L Y P E D D L X p.453
. . . . . . g.12977
aaaattaactgctaacttctattgacccacaaagtttcagaaattctctgaaagtttctt c.*60
. . . . . . g.13037
ccttttttctcttactatatttattgatttcaagtcttctattaaggacatttagccttc c.*120
. . . . . . g.13097
aatggaaattaaaactcatttaggactgtatttccaaattactgatatcagagttattta c.*180
. . . . . . g.13157
aaaattgtttatttgaggagataacatttcaactttgttcctaaatatataataataaaa c.*240
. g.13175
tgattgactttatttgca c.*258
(downstream sequence)
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