(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_194277.2 in the FRMD7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012347.1, covering FRMD7 transcript NM_194277.2.
(upstream sequence)
. . . . . g.5058
acaaatgcccttgggtgtgcattacttcaagcaaacggaagtgtgccccgctgacagt c.-121
. . . . . . g.5118
gggaatgcctggctgggggtgggggggcccgagtgcaccacatccagctgggagtgaaat c.-61
. . . . . . g.5178
tcctggagaaagcacccacagcactctgagcctgcttgcagcccaacggcctcgctgaga c.-1
. . . . . | 02. g.32309
ATGCTACATTTAAAAGTGCAGTTTTTGGATGATTCCCAGAAGATTTTTGTGGTTGAT | CAA c.60
M L H L K V Q F L D D S Q K I F V V D | Q p.20
. . . . . . g.32369
AAGTCATCCGGGAAGGCATTGTTTAACCTGAGTTGCAGCCATCTAAATCTTGCTGAAAAG c.120
K S S G K A L F N L S C S H L N L A E K p.40
. . . . | 03 . . g.33530
GAATATTTTGGATTAGAATTCTGCAGCCATTCTGGAAATAAT | GTTTGGCTGGAGCTTTTG c.180
E Y F G L E F C S H S G N N | V W L E L L p.60
. . | 04 . . . . g.35713
AAGCCCATAACAAAGCAGGTAAAAA | ATCCTAAGGAGATTGTTTTCAAATTTATGGTGAAA c.240
K P I T K Q V K N | P K E I V F K F M V K p.80
. . . . | 05 . . g.38899
TTTTTCCCAGTGGACCCTGGACATCTGCGGGAAGAACTTACAAG | GTATCTTTTTACTCTT c.300
F F P V D P G H L R E E L T R | Y L F T L p.100
. . . . . . g.38959
CAAATAAAGAAGGATTTGGCTCTAGGAAGGCTTCCATGCAGTGACAACTGTACAGCGTTG c.360
Q I K K D L A L G R L P C S D N C T A L p.120
. . | 06 . . . . g.47026
ATGGTATCTCACATCTTACAAT | CAGAACTTGGAGACTTTCATGAAGAAACAGATAGGAAG c.420
M V S H I L Q S | E L G D F H E E T D R K p.140
. . . . . . g.47086
CATCTGGCACAAACTCGGTACTTACCAAACCAAGACTGTTTAGAGGGCAAGATCATGCAC c.480
H L A Q T R Y L P N Q D C L E G K I M H p.160
. | 07. . . . . g.47337
TTTCATCAGAAGCACAT | TGGCAGGAGCCCAGCTGAATCTGACATTCTGCTACTGGACATA c.540
F H Q K H I | G R S P A E S D I L L L D I p.180
. . . . . . g.47397
GCAAGGAAGCTGGATATGTATGGCATCAGGCCTCACCCCGCCAGTGATGGTGAAGGGATG c.600
A R K L D M Y G I R P H P A S D G E G M p.200
. . . . | 08 . . g.48452
CAGATTCACCTGGCTGTTGCTCACATGGGAGTACTGGTGTTACGG | GGAAATACAAAGATC c.660
Q I H L A V A H M G V L V L R | G N T K I p.220
. . . . . . g.48512
AATACTTTTAACTGGGCTAAAATCCGCAAGTTGAGTTTTAAGAGAAAGCATTTTCTCATC c.720
N T F N W A K I R K L S F K R K H F L I p.240
. . | 09 . . . . g.50535
AAACTTCATGCCAATATCTTG | GTGTTGTGCAAGGATACCTTGGAGTTCACCATGGCCAGC c.780
K L H A N I L | V L C K D T L E F T M A S p.260
. . . . . . g.50595
CGAGATGCCTGCAAGGCTTTCTGGAAGACTTGTGTGGAATACCATGCTTTCTTCAGGCTT c.840
R D A C K A F W K T C V E Y H A F F R L p.280
. . . . . . g.50655
TCGGAAGAGCCCAAATCAAAGCCCAAAACCCTACTCTGCAGCAAGGGTTCCAGTTTCCGC c.900
S E E P K S K P K T L L C S K G S S F R p.300
| 10 . . . . . . g.52811
TATAG | TGGACGAACCCAAAGGCAACTTTTGGAATATGGGAGAAAAGGGAGGCTGAAGAGC c.960
Y S | G R T Q R Q L L E Y G R K G R L K S p.320
. | 11 . . . . . g.52987
TTGCCATTTGAAAG | GAAACATTACCCATCTCAGTACCATGAACGACAGTGCAGGTCCTCA c.1020
L P F E R | K H Y P S Q Y H E R Q C R S S p.340
. . . | 12 . . . g.54086
CCAGACCTCCTCTCTGATGTGTCAAAACAA | GTGGAAGATTTGAGACTAGCATATGGTGGT c.1080
P D L L S D V S K Q | V E D L R L A Y G G p.360
. . . . . . g.54146
GGCTACTACCAAAATGTGAATGGAGTGCACGCATCTGAGCCAGTGCTGGAGAGTAGGAGG c.1140
G Y Y Q N V N G V H A S E P V L E S R R p.380
. . . . . . g.54206
AGGAATTCTGCATTGGAGGTGACATTTGCAACTGAGCTGGAGCATTCCAAACCAGAGGCG c.1200
R N S A L E V T F A T E L E H S K P E A p.400
. . . . . . g.54266
GATCCCACATTGCTACATCAGTCCCAAAGCAGTTCCTCTTTCCCTTTTATTTATATGGAC c.1260
D P T L L H Q S Q S S S S F P F I Y M D p.420
. . . . . . g.54326
CCTGTCTTTAACACTGAGCCCAATCCTAACCCTGATCCCAGAGACATTTTTTCAGAGAGG c.1320
P V F N T E P N P N P D P R D I F S E R p.440
. . . . . . g.54386
AGTTCTCTAAGCTCCTTCCAAACAAGCTGTAAGTTTTCTGGTAATCACATGAGCATATAT c.1380
S S L S S F Q T S C K F S G N H M S I Y p.460
. . . . . . g.54446
TCTGGCCTCACAAGCAAAGTGCGTCCAGCAAAGCAGCTAACTTACACGGATGTGCCCTAT c.1440
S G L T S K V R P A K Q L T Y T D V P Y p.480
. . . . . . g.54506
ATTCCTTGTACAGGTCAGCAGGTTGGTATTATGCCTCCCCAGGTCTTTTTTTATGTGGAC c.1500
I P C T G Q Q V G I M P P Q V F F Y V D p.500
. . . . . . g.54566
AAGCCACCCCAGGTGCCCAGATGGTCCCCAATTAGAGCAGAGGAAAGGACAAGTCCACAT c.1560
K P P Q V P R W S P I R A E E R T S P H p.520
. . . . . . g.54626
AGCTATGTAGAGCCCACTGCAATGAAGCCAGCTGAAAGAAGCCCAAGGAATATCAGAATG c.1620
S Y V E P T A M K P A E R S P R N I R M p.540
. . . . . . g.54686
AAGAGCTTTCAGCAAGACCTGCAAGTACTCCAAGAAGCTATAGCCAGGACTAGCGGTAGG c.1680
K S F Q Q D L Q V L Q E A I A R T S G R p.560
. . . . . . g.54746
AGCAACATCAATGTAGGTCTAGAAGAGGAAGACCCAAATTTGGAAGATGCATTTGTATGT c.1740
S N I N V G L E E E D P N L E D A F V C p.580
. . . . . . g.54806
AACATTCAAGAGCAAACCCCTAAAAGGTCCCAGAGCCAATCAGACATGAAAACTATTCGT c.1800
N I Q E Q T P K R S Q S Q S D M K T I R p.600
. . . . . . g.54866
TTTCCTTTTGGGTCAGAATTTAGACCTTTAGGGCCTTGTCCTGCTCTCAGTCATAAAGCA c.1860
F P F G S E F R P L G P C P A L S H K A p.620
. . . . . . g.54926
GACCTGTTTACGGATATGTTTGCAGAGCAGGAGTTGCCAGCAGTTCTAATGGATCAAAGT c.1920
D L F T D M F A E Q E L P A V L M D Q S p.640
. . . . . . g.54986
ACAGCAGAAAGGTATGTAGCTAGTGAATCCAGTGATTCTGAATCAGAGATTCTTAAACCA c.1980
T A E R Y V A S E S S D S E S E I L K P p.660
. . . . . . g.55046
GACTACTATGCTTTGTATGGCAAAGAAATAAGGTCACCCATGGCCAGAATCCGCCTGTCT c.2040
D Y Y A L Y G K E I R S P M A R I R L S p.680
. . . . . . g.55106
TCTGGTAGTCTACAGTTAGATGAAGAAGATGAAGATGCTTATTTCAACACACCAACTGCT c.2100
S G S L Q L D E E D E D A Y F N T P T A p.700
. . . . g.55151
GAAGACAGGACTTCACTAAAACCATGTAATTACTTTTTAGCTTAA c.2145
E D R T S L K P C N Y F L A X p.714
. . . . . . g.55211
aagtgtgaacctatggacatttctgagccagttccatgttaccgacttaggcagaaaata c.*60
. . . . . . g.55271
atgaagttgtagaaaccattttcttggttactacatattcattggtattaaggaaatctc c.*120
. . . . . . g.55331
attttggatgcctgccttatgaaagatccagctgttgcctcattccttgagtttcactct c.*180
. . . . . . g.55391
tccattacctctgaagggactttagaacatgccctctcctcaccagcactgtggcaaggc c.*240
. . . . . . g.55451
aaggtgggtatttgtcatctccactgcatacttcctcatagagacattgtgagtgaaggt c.*300
. . . . . . g.55511
caggctcttcaatgctgaagaatggtgacagtatgggttggcatatggaattagcgtcta c.*360
. . . . . . g.55571
atggcatttagtgatttagtagattgtgactgtgttgatctttgtgctcttaaacaacac c.*420
. . . . . . g.55631
tgaacaaatatttcagtctttactatttgtgtggggcccagtagaaatggtcttgtaata c.*480
. . . . . . g.55691
tgctaaatacttccatttttataacatataaaagcagagcatggccctcctacagcctca c.*540
. . . . . . g.55751
ggaaggaggtggtggcatagatcctctcaagagaatacaggtttagaattaatctaggac c.*600
. . . . . . g.55811
ttggcagaattctaaacctaggaaattcatgaattaaatcaatttctagagccagacata c.*660
. . . . . . g.55871
aaccagatgaaagtatcatgttgttttacttataacttctatattcttatctactatatc c.*720
. . . . . . g.55931
tagtaaaagagaaacattatcaggtcagtttgtttatctaatatttcctgccagaattta c.*780
. . . . . . g.55991
ttttttgtcatagcttcttgcatgtatgcaggccaggaaatgaatgttattgtaataaag c.*840
. . . g.56030
tgtgatggaaaatccaggtaattaaaaaataaattataa c.*879
(downstream sequence)
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