(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004183.3 in the BEST1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009033.1, covering BEST1 transcript NM_004183.3.
(upstream sequence)
. . . . g.5040
caaggctgggaccagaaaccaggactgttgactgcagccc c.-541
. . . . . . g.5100
ggtattcattctttccatagcccacagggctgtcaaagaccccagggcctagtcagaggc c.-481
. . . . . . g.5160
tcctccttcctggagagttcctggcacagaagttgaagctcagcacagccccctaacccc c.-421
. . . . . . g.5220
caactctctctgcaaggcctcaggggtcagaacactggtggagcagatcctttagcctct c.-361
. . . . . . g.5280
ggattttagggccatggtagagggggtgttgccctaaattccagccctggtctcagccca c.-301
. . . . . . g.5340
acaccctccaagaagaaattagaggggccatggccaggctgtgctagccgttgcttctga c.-241
. . . . . . g.5400
gcagattacaagaagggactaagacaaggactcctttgtggaggtcctggcttagggagt c.-181
. . . . . . g.5460
caagtgacggcggctcagcactcacgtgggcagtgccagcctctaagagtgggcaggggc c.-121
. . . . . . g.5520
actggccacagagtcccagggagtcccaccagcctagtcgccagaccttctgtgggatca c.-61
. . . | 02 . . . g.6923
tcggacccacctggaaccccacct | gacccaagcccacctgctgcagcccactgcctggcc c.-1
. . . . . . g.6983
ATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTG c.60
M T I T Y T S Q V A N A R L G S F S R L p.20
. . . . . . g.7043
CTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTG c.120
L L C W R G S I Y K L L Y G E F L I F L p.40
. . . | 03 . . . g.10251
CTCTGCTACTACATCATCCGCTTTATTTATAG | GCTGGCCCTCACGGAAGAACAACAGCTG c.180
L C Y Y I I R F I Y R | L A L T E E Q Q L p.60
. . . . . . g.10311
ATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTC c.240
M F E K L T L Y C D S Y I Q L I P I S F p.80
| 04. . . . . . g.10887
GTGCTGG | GCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTG c.300
V L G | F Y V T L V V T R W W N Q Y E N L p.100
. . . . . . g.10947
CCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAA c.360
P W P D R L M S L V S G F V E G K D E Q p.120
. . . . . . g.11007
GGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTG c.420
G R L L R R T L I R Y A N L G N V L I L p.140
. . . . . . g.11067
CGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCA c.480
R S V S T A V Y K R F P S A Q H L V Q A p.160
| 05 . . . . . . g.12019
G | GCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATG c.540
G | F M T P A E H K Q L E K L S L P H N M p.180
. . . . . . g.12079
TTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGA c.600
F W V P W V W F A N L S M K A W L G G R p.200
. . . | 06 . . . g.12527
ATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAAC | GAGATGAACACCTTGCGTACTCAG c.660
I R D P I L L Q S L L N | E M N T L R T Q p.220
. . . . . | 07 . g.13268
TGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAG | GTGGTG c.720
C G H L Y A Y D W I S I P L V Y T Q | V V p.240
. . . . . . g.13328
ACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCA c.780
T V A V Y S F F L T C L V G R Q F L N P p.260
. . . . . . g.13388
GCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAG c.840
A K A Y P G H E L D L V V P V F T F L Q p.280
. . | 08. . . . g.14647
TTCTTCTTCTATGTTGGCTGGCTGAAG | GTGGCAGAGCAGCTCATCAACCCCTTTGGAGAG c.900
F F F Y V G W L K | V A E Q L I N P F G E p.300
. . . . | 09 . g.15020
GATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAG | GTGTCCCTGTTG c.960
D D D D F E T N W I V D R N L Q | V S L L p.320
. . . . . . g.15080
GCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAG c.1020
A V D E M H Q D L P R M E P D M Y W N K p.340
. . . . . . g.15140
CCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATG c.1080
P E P Q P P Y T A A S A Q F R R A S F M p.360
. . | 10 . . . . g.17411
GGCTCCACCTTCAACATCAG | CCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAG c.1140
G S T F N I S | L N K E E M E F Q P N Q E p.380
. . . . . . g.17471
GACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGAT c.1200
D E E D A H A G I I G R F L G L Q S H D p.400
. . . . . . g.17531
CACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTT c.1260
H H P P R A N S R T K L L W P K R E S L p.420
. . . . . . g.17591
CTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAA c.1320
L H E G L P K N H K A A K Q N V R G Q E p.440
. . . . . . g.17651
GACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAG c.1380
D N K A W K L K A V D A F K S A P L Y Q p.460
. . . . . . g.17711
AGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCC c.1440
R P G Y Y S A P Q T P L S P T P M F F P p.480
. . . . . . g.17771
CTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAA c.1500
L E P S A P S K L H S V T G I D T K D K p.500
. . . . . . g.17831
AGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGAT c.1560
S L K T V S S G A K K S F E L L S E S D p.520
. . . . . . g.17891
GGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAAC c.1620
G A L M E H P E V S Q V R R K T V E F N p.540
. . . . . . g.17951
CTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCA c.1680
L T D M P E I P E N H L K E P L E Q S P p.560
. . . . . | 11 g.19221
ACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAG | G c.1740
T N I H T T L K D H M D P Y W A L E N R | p.580
. g.19239
GATGAAGCACATTCCTAA c.1758
D E A H S X p.585
. . . . . . g.19299
cctgcttcctaatggggatgcttcgccagccaggtcctcacctgtgtgtacaccagcagg c.*60
. . . . . . g.19359
acactgatccagtcacagccatacagctgtccacactgaagaacatgtcctacaacagcc c.*120
. . . . . . g.19419
tgaatcaaatggttagcttaatagataaaaatcccagactacttcagcctttaatgcctt c.*180
. . . . . . g.19479
ttattcataaaaactgtgaaagctagactgaaccattggaaacatttaactcagactctg c.*240
. . . . . . g.19539
gattcagagtcgggaacccttagttctatctgaatccaagacagccacaccttagtatac c.*300
. . . . g.19580
tgcccaaactaatgagtttaataaatacaaatactcgtttc c.*341
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center