(used for variant description)
(last modified October 13, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_032892.3 in the FRMD5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering FRMD5 transcript NM_032892.3.
(upstream sequence)
. . . . . g.5057
ggctgagggaaggaggaggataaggaggaggaacgaggccagcaggaggcaacggca c.-121
. . . . . . g.5117
gcgacggggccggggtgatggtgcaggtgcctggggtcggtgcggagctgccgggctgag c.-61
. . . . . . g.5177
ggacgcctggtccagggtccgcagcgccgccgcgtcgctcccgggcgggcgggcgggaag c.-1
. . . . . . g.5237
ATGCTGAGCAGGTTGATGAGCGGCAGCAGCAGGAGCCTGGAGCGCGAGTACAGCTGCACC c.60
M L S R L M S G S S R S L E R E Y S C T p.20
. . . . | 02 . . g.275940
GTGCGGCTGCTGGACGACAGCGAGTACACCTGCACCATCCAG | AGAGATGCCAAAGGCCAG c.120
V R L L D D S E Y T C T I Q | R D A K G Q p.40
. . . . . . g.276000
TACCTGTTTGACCTTCTTTGCCACCATCTGAACCTACTTGAGAAAGACTATTTTGGTATC c.180
Y L F D L L C H H L N L L E K D Y F G I p.60
. . | 03. . . . g.280455
CGCTTTGTAGACCCAGATAAGCAGCGG | CATTGGCTGGAATTTACAAAGTCTGTGGTGAAA c.240
R F V D P D K Q R | H W L E F T K S V V K p.80
. | 04 . . . . . g.280744
CAATTGAGAT | CCCAGCCTCCATTCACCATGTGCTTCCGTGTGAAGTTTTATCCTGCAGAC c.300
Q L R S | Q P P F T M C F R V K F Y P A D p.100
. . | 05 . . . g.290283
CCTGCTGCTCTGAAAGAAGAAATAACCAG | GTATTTAGTCTTCCTGCAGATCAAAAGGGAT c.360
P A A L K E E I T R | Y L V F L Q I K R D p.120
. . . . . . g.290343
CTCTACCATGGCCGACTCCTCTGTAAAACATCGGATGCTGCCTTGTTAGCAGCTTACATC c.420
L Y H G R L L C K T S D A A L L A A Y I p.140
| 06. . . . . . g.294333
CTTCAAG | CGGAGATTGGGGATTATGACTCAGGGAAACACCCTGAAGGCTACAGCTCCAAG c.480
L Q A | E I G D Y D S G K H P E G Y S S K p.160
. . . . . . g.294393
TTCCAGTTTTTCCCTAAACATTCAGAGAAGCTGGAAAGGAAAATTGCTGAGATTCACAAG c.540
F Q F F P K H S E K L E R K I A E I H K p.180
. | 07 . . . . . g.298018
ACGGAACTGAG | TGGTCAAACACCAGCAACATCAGAGCTGAACTTCTTAAGAAAAGCACAG c.600
T E L S | G Q T P A T S E L N F L R K A Q p.200
. . . | 08 . . g.308183
ACATTGGAAACATATGGAGTGGATCCTCACCCATGTAAG | GACGTGTCAGGAAATGCTGCA c.660
T L E T Y G V D P H P C K | D V S G N A A p.220
. . . . . . g.308243
TTTCTGGCCTTCACTCCTTTTGGGTTTGTTGTTCTTCAAGGAAACAAGAGGGTCCACTTC c.720
F L A F T P F G F V V L Q G N K R V H F p.240
| 09 . . . . . g.311411
ATTAAATG | GAATGAGGTGACCAAGCTGAAATTTGAAGGAAAGACTTTCTATTTATACGTA c.780
I K W | N E V T K L K F E G K T F Y L Y V p.260
. | 10 . . . . . g.312013
AGTCAGAAAGAG | GAAAAGAAAATTATTCTTACATATTTTGCTCCAACTCCTGAAGCGTGT c.840
S Q K E | E K K I I L T Y F A P T P E A C p.280
. . . . | 11 . . g.314492
AAGCACCTCTGGAAATGTGGAATCGAGAACCAAGCCTTCTACAA | GCTGGAGAAGTCAAGC c.900
K H L W K C G I E N Q A F Y K | L E K S S p.300
. . . . . | 12 g.315437
CAAGTCCGCACAGTGTCCAGCAGCAATTTATTCTTTAAAGGGAGCCGGTTCCGATACAG | T c.960
Q V R T V S S S N L F F K G S R F R Y S | p.320
. . . . . . g.315497
GGCCGAGTTGCAAAGGAAGTCATGGAATCAAGTGCTAAGATCAAACGGGAGCCACCGGAA c.1020
G R V A K E V M E S S A K I K R E P P E p.340
| 13 . . . . . g.316474
ATACACAG | AGCAGGGATGGTTCCCAGCCGGAGCTGTCCCTCCATAACCCATGGCCCAAGG c.1080
I H R | A G M V P S R S C P S I T H G P R p.360
. . . . . | 14 . g.325774
CTGAGCAGCGTCCCCAGGACCCGCAGAAGAGCTGTTCACATCTCCATCATGGAAG | GCCTA c.1140
L S S V P R T R R R A V H I S I M E G | L p.380
. . . . . . g.325834
GAGTCCTTACGGGACAGTGCCCATTCCACACCAGTGCGTTCCACTTCCCATGGGGACACC c.1200
E S L R D S A H S T P V R S T S H G D T p.400
. . . . . . g.325894
TTCCTGCCTCACGTGAGAAGCAGCCGGACAGATAGCAATGAGCGAGTAGCTGTGATTGCA c.1260
F L P H V R S S R T D S N E R V A V I A p.420
. . . . . . g.325954
GACGAGGCCTACAGCCCTGCAGACAGCGTGCTGCCCACCCCTGTGGCTGAGCACAGCCTG c.1320
D E A Y S P A D S V L P T P V A E H S L p.440
. . . . . . g.326014
GAGCTGATGTTGCTTTCCCGGCAGATCAATGGAGCCACCTGCAGCATTGAGGAGGAGAAG c.1380
E L M L L S R Q I N G A T C S I E E E K p.460
. . . . . . g.326074
GAATCTGAAGCCAGCACCCCAACTGCTACAGAGGTGGAGGCCCTTGGGGGAGAGCTGAGG c.1440
E S E A S T P T A T E V E A L G G E L R p.480
. . . . . . g.326134
GCCCTGTGTCAGGGGCACAGCGGGCCCGAGGAGGAACAGGTGAATAAGTTTGTTCTAAGT c.1500
A L C Q G H S G P E E E Q V N K F V L S p.500
. . . . . . g.326194
GTCCTCCGTTTGCTCCTTGTGACCATGGGACTCCTCTTTGTTTTGCTCCTCCTCCTGATC c.1560
V L R L L L V T M G L L F V L L L L L I p.520
. . . . . . g.326254
ATCCTTACCGAGTCTGACCTTGACATTGCCTTTTTCCGTGATATCCGCCAGACCCCCGAG c.1620
I L T E S D L D I A F F R D I R Q T P E p.540
. . . . . . g.326314
TTTGAACAATTCCACTATCAATACTTTTGTCCCCTCAGGCGATGGTTTGCCTGCAAAATC c.1680
F E Q F H Y Q Y F C P L R R W F A C K I p.560
. . . g.326347
CGCTCAGTGGTGAGCCTGCTCATTGACACCTGA c.1713
R S V V S L L I D T X p.570
. . . . . . g.326407
gaaggcatgactcctcccaaaaactagccaggtggaccaaggaacccggctacccattcc c.*60
. . . . . . g.326467
cagcaatgggacccatcgcggaaccatcggcacatataccaagtcctcctctcatgactc c.*120
. . . . . . g.326527
aaagtccactgcagcctaggagggtgtttcccagaagaagaaagggataggctcatgccc c.*180
. . . . . . g.326587
tgtctaaacaaactgggaaaactcattttcttcagaagttatttcaagaaaggctcagcg c.*240
. . . . . . g.326647
actctgtttctcatctttccaatttgcaggataatttttggttttgaattttgatttttc c.*300
. . . . . g.326700
atagatgtatattattttgaagtatcaaataaaaataatttattttactatta c.*353
(downstream sequence)
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