(used for variant description)
(last modified March 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_033028.4 in the BBS4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009416.2, covering BBS4 transcript NM_033028.4.
(upstream sequence)
. . . . g.5043
gtctgggaaaccgccgacttccggccgcgcagcggtgggctgagctaaa c.-1
. . | 02 . . . . g.14028
ATGGCTGAGGAGAGAGTCGCGACG | AGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAA c.60
M A E E R V A T | R T Q F P V S T E S Q K p.20
. | 03 . . . . . g.28559
CCCCGGCAGAAAAAAG | CTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCAT c.120
P R Q K K A | P E F P I L E K Q N W L I H p.40
. . . | 04 . . . g.31083
CTTCATTATATCCGGAAAGATTATGAAGCCTGCAAG | GCTGTTATCAAAGAACAGCTTCAA c.180
L H Y I R K D Y E A C K | A V I K E Q L Q p.60
. . . . | 05 . . g.34126
GAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAG | CATTGATATTTCGCCTAGAA c.240
E T Q G L C E Y A I Y V Q A | L I F R L E p.80
. . . . . . g.34186
GGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGT c.300
G N I Q E S L E L F Q T C A V L S P Q S p.100
. . . | 06 . . . g.35621
GCTGATAACCTCAAGCAGGTGGCCAGATCTTT | ATTTCTTTTGGGAAAACATAAAGCTGCC c.360
A D N L K Q V A R S L | F L L G K H K A A p.120
. . . . | 07 . . g.41624
ATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGG | GAGATCAGCCATAAC c.420
I E V Y N E A A K L N Q K D W | E I S H N p.140
. . . | 08 . . g.43364
CTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAG | GCACAAGACCAGTTGCACAAT c.480
L G V C Y I Y L K Q F N K | A Q D Q L H N p.160
. . . . . . g.43424
GCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTG c.540
A L N L N R H D L T Y I M L G K I H L L p.180
. . . . | 09. . g.46768
GAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGA | GTTCTCACCAGAA c.600
E G D L D K A I E V Y K K A V E | F S P E p.200
. . . . | 10 . . g.48449
AATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACAG | CTCGGCATTTACCAGAAG c.660
N T E L L T T L G L L Y L Q | L G I Y Q K p.220
. . . . . | 11 . g.50129
GCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAG | GCCATCTTG c.720
A F E H L G N A L T Y D P T N Y K | A I L p.240
. . . . . . g.50189
GCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGA c.780
A A G S M M Q T H G D F D V A L T K Y R p.260
. . . . . . g.50249
GTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTC c.840
V V A C A V P E S P P L W N N I G M C F p.280
. . | 12 . . . . g.50406
TTTGGCAAGAAGAAATATGTGGCG | GCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCA c.900
F G K K K Y V A | A I S C L K R A N Y L A p.300
. . . . . . g.50466
CCCTTCGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTAT c.960
P F D W K I L Y N L G L V H L T M Q Q Y p.320
. . . . . . g.50526
GCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTC c.1020
A S A F H F L S A A I N F Q P K M G E L p.340
. | 13 . . . . . g.53972
TACATGCTCTTGGCAG | TGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCC c.1080
Y M L L A V | A L T N L E D I E N A K R A p.360
. . | 14 . . . . g.54674
TACGCAGAAGCAGTCCACCTGGATAA | GTGTAACCCTTTAGTAAACCTGAACTATGCTGTG c.1140
Y A E A V H L D K | C N P L V N L N Y A V p.380
. . . . . . g.54734
CTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAG c.1200
L L Y N Q G E K K N A L A Q Y Q E M E K p.400
. . . . | 15 . g.55589
AAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAG | ATGGTGGAGATG c.1260
K V S L L K D N S S L E F D S E | M V E M p.420
. . . . . . g.55649
GCTCAGAAGTTGGGAGCTGCTCTCCAGGTTGGGGAGGCACTGGTCTGGACCAAACCAGTT c.1320
A Q K L G A A L Q V G E A L V W T K P V p.440
. . . . . . g.55709
AAAGATCCCAAATCAAAGCACCAGACCACTTCAACCAGCAAACCTGCCAGTTTCCAGCAG c.1380
K D P K S K H Q T T S T S K P A S F Q Q p.460
. . . . . . g.55769
CCTCTGGGCTCTAATCAAGCTCTAGGACAGGCAATGTCTTCAGCAGCTGCATACAGGACG c.1440
P L G S N Q A L G Q A M S S A A A Y R T p.480
. | 16 . . . . . g.56343
CTCCCCTCAG | GTGCTGGAGGAACATCCCAGTTCACAAAGCCCCCATCTCTTCCTCTGGAG c.1500
L P S G | A G G T S Q F T K P P S L P L E p.500
. . . . . . g.56403
CCAGAGCCTGCGGTGGAATCAAGTCCAACTGAAACATCAGAACAAATAAGAGAGAAATAA c.1560
P E P A V E S S P T E T S E Q I R E K X p.519
. . . . . . g.56463
gaatagaatgaatgaccccaaaatagggttttcttgggcgaggatgtgctggattaggaa c.*60
. . . . . . g.56523
aggtgacatgacacaggcagagcagagtggcacccaccacagaatacagtgtgtgttatt c.*120
. . . . . . g.56583
acgaggagccagcagttgagcctaaggtccttctacctacctggtattggcatttgaggt c.*180
. . . . . . g.56643
cggaaaccctctactgccccataagccaggaaaagtgaaaagagaacacagttcctttaa c.*240
. . . . . . g.56703
gaactggcagcaaggcttgaggccttatgtatgtagctgagtcagcaaggtacatgatgc c.*300
. . . . . . g.56763
tgtctgctttcaaaaggacttttctctcctagctgactgactccttccttagttcaagga c.*360
. . . . . . g.56823
acagctgagacagacctctgctgagtagctctgtgatgacaaagccttggtttaactgag c.*420
. . . . . . g.56883
gtgatcctcaggttgtgaggtttattagtccccaaggcaaacacaaatattagattaata c.*480
. . . . . . g.56943
atccaactttaatagtatacatttaaaagaaaaaaaacaaaagccctggaagttgaggcc c.*540
. . . . . . g.57003
aagcctgctgagtattgcagctgcatttgcccaaagggaatccagaacaagtccctccct c.*600
. . . . . . g.57063
gtattttgttcttgagaggggtcagtctagaagctagatcctatcaggatgaggagcagc c.*660
. . . . . . g.57123
agcccagggcttgtctggatcagcaccaacgattttaaagaaaaaaggaagagtttctta c.*720
. . . . . . g.57183
gatgagtaattgttattgaagatagtcagtgataaccactgaccagatgctatcaataca c.*780
. . . . . . g.57243
ctatgtgtcctttttagaataaagattacatatcatcattcctttggggaaaattgttat c.*840
. . . . g.57292
tcaggtataaaaacaagagatcataataaaaacctaaaagaacctatga c.*889
(downstream sequence)
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