(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_031885.3 in the BBS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009312.1, covering BBS2 transcript NM_031885.3.
(upstream sequence)
. . . . . g.5241
cacagaaggcgccgaggctccaccgcgcagccgcaaaaagagcggacgggtctg c.-181
. . . . . . g.5301
cgccgccgcaggaggagcaggcggtacctggacgggttcgtcccgggctgtttcgcgtcc c.-121
. . . . . . g.5361
ggcctgaggcggctggggccgcgcaggtagtgtccctgcacttcttgcccgggcgcgtga c.-61
. . . . . . g.5421
ggccagctccgctgcgcttgtctccagcttccagccctcctcccctaagccgccgccatc c.-1
. . . . . . g.5481
ATGCTGCTGCCTGTGTTCACCCTGAAACTGCGCCACAAAATCAGCCCCCGAATGGTGGCC c.60
M L L P V F T L K L R H K I S P R M V A p.20
. . . . . | 02. g.10606
ATAGGGCGCTACGACGGGACTCACCCGTGCCTGGCGGCCGCCACCCAAACGGGCAAG | GTT c.120
I G R Y D G T H P C L A A A T Q T G K | V p.40
. . . . . . g.10666
TTTATTCATAATCCTCATACACGGAACCAGCATGTCAGTGCATCCAGGGTCTTCCAGAGC c.180
F I H N P H T R N Q H V S A S R V F Q S p.60
. . . . . . g.10726
CCCCTGGAATCTGATGTTTCTCTTCTCAACATTAACCAGGCAGTCAGCTGTCTGACTGCA c.240
P L E S D V S L L N I N Q A V S C L T A p.80
. . . . . . g.10786
GGCGTATTGAACCCTGAGCTTGGCTATGATGCCCTTTTAGTGGGGACACAGACTAATCTT c.300
G V L N P E L G Y D A L L V G T Q T N L p.100
. . . . | 03 . . g.14014
TTGGCTTATGATGTCTACAATAATTCGGATTTGTTCTACAGAGAG | GTAGCAGATGGGGCA c.360
L A Y D V Y N N S D L F Y R E | V A D G A p.120
. . . . . . g.14074
AATGCAATTGTGCTGGGGACATTGGGAGACATTTCTTCCCCTCTTGCGATTATTGGTGGC c.420
N A I V L G T L G D I S S P L A I I G G p.140
. . . . . | 04 . g.14371
AATTGTGCTCTGCAAGGTTTCAATCATGAAGGAAGTGATCTCTTTTGGACG | GTTACTGGA c.480
N C A L Q G F N H E G S D L F W T | V T G p.160
. . . . . | 05 . g.15255
GACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAG | CTTCTT c.540
D N V N S L A L C D F D G D G K K E | L L p.180
. . . . . . g.15315
GTTGGATCTGAGGATTTTGATATCCGAGTTTTTAAGGAAGATGAGATTGTGGCAGAAATG c.600
V G S E D F D I R V F K E D E I V A E M p.200
. | 06 . . . . . g.19107
ACAGAAACAGAG | ATAGTCACCTCTCTTTGTCCCATGTATGGCAGTCGATTTGGTTATGCC c.660
T E T E | I V T S L C P M Y G S R F G Y A p.220
. . . . . | 07. g.19250
CTTTCCAATGGCACAGTTGGAGTTTATGACAAAACATCCCGATACTGGAGAATTAAA | TCG c.720
L S N G T V G V Y D K T S R Y W R I K | S p.240
. . . . . . g.19310
AAAAATCATGCCATGAGCATTCATGCTTTTGACCTTAATTCTGATGGAGTGAATGAACTG c.780
K N H A M S I H A F D L N S D G V N E L p.260
. . | 08 . . . . g.22511
ATAACTGGTTGGTCCAATGGGAAG | GTTGATGCTCGAAGTGACCGAACTGGGGAGGTCATC c.840
I T G W S N G K | V D A R S D R T G E V I p.280
. . . . . . g.22571
TTTAAGGACAATTTTTCTTCTGCAATTGCCGGTGTGGTAGAGGGAGATTACCGGATGGAT c.900
F K D N F S S A I A G V V E G D Y R M D p.300
. . . . | 09 . . g.22847
GGCCACATACAGTTAATCTGCTGCTCAGTGGATGGGGAAA | TCCGGGGCTACCTGCCTGGC c.960
G H I Q L I C C S V D G E I | R G Y L P G p.320
. . . . . . g.22907
ACGGCTGAGATGAGGGGCAACCTCATGGACACCAGTGCAGAGCAGGACCTGATCCGAGAG c.1020
T A E M R G N L M D T S A E Q D L I R E p.340
. . . . . . g.22967
CTGAGTCAGAAGAAGCAGAATCTGTTGCTGGAACTCCGTAACTATGAGGAAAATGCCAAG c.1080
L S Q K K Q N L L L E L R N Y E E N A K p.360
| 10 . . . . . . g.23846
| GCTGAATTGGCCAGTCCACTGAACGAGGCTGATGGGCATCGGGGCATAATCCCAGCCAAT c.1140
| A E L A S P L N E A D G H R G I I P A N p.380
. . . . . . g.23906
ACCAGGCTCCACACCACGCTCTCAGTCAGCCTGGGGAATGAGACCCAAACTGCTCATACA c.1200
T R L H T T L S V S L G N E T Q T A H T p.400
. . | 11 . . . . g.24293
GAATTACGCATTTCCACTTCTAATG | ACACCATCATCCGAGCAGTATTGATTTTTGCAGAA c.1260
E L R I S T S N D | T I I R A V L I F A E p.420
. . . . . . g.24353
GGAATTTTTACAGGTGAAAGCCACGTGGTACATCCCAGCATTCACAACCTCTCCAGTTCC c.1320
G I F T G E S H V V H P S I H N L S S S p.440
. . . . . . g.24413
ATCTGCATCCCTATTGTGCCTCCCAAAGATGTCCCTGTGGATCTGCACTTGAAGGCATTC c.1380
I C I P I V P P K D V P V D L H L K A F p.460
. | 12. . . . . g.25419
GTGGGTTACAGAAGCAG | CACCCAGTTTCATGTATTTGAATCGACAAGACAGCTCCCTCGA c.1440
V G Y R S S | T Q F H V F E S T R Q L P R p.480
. . . . . . g.25479
TTCTCCATGTATGCGCTGACCAGCCTGGACCCTGCCAGTGAGCCAATCAGTTATGTTAAC c.1500
F S M Y A L T S L D P A S E P I S Y V N p.500
. . | 13. . . . g.26748
TTTACCATTGCAGAACGGGCACAGAGG | GTTGTTGTATGGCTCGGTCAGAACTTTCTGTTA c.1560
F T I A E R A Q R | V V V W L G Q N F L L p.520
. . . . . . g.26808
CCAGAAGACACTCACATTCAGAATGCTCCATTTCAAGTGTGTTTCACATCTTTACGGAAT c.1620
P E D T H I Q N A P F Q V C F T S L R N p.540
. . . | 14 . . g.27424
GGCGGCCACCTGCATATAAAAATAAAACTTAGTGGAGAG | ATCACTATAAATACTGATGAT c.1680
G G H L H I K I K L S G E | I T I N T D D p.560
. . . . . . g.27484
ATTGATTTGGCTGGTGATATCATCCAGTCAATGGCATCATTTTTTGCTATTGAAGACCTT c.1740
I D L A G D I I Q S M A S F F A I E D L p.580
. . . . . | 15. g.28207
CAAGTAGAAGCGGATTTTCCTGTCTATTTTGAGGAATTACGAAAGGTGCTAGTTAAG | GTG c.1800
Q V E A D F P V Y F E E L R K V L V K | V p.600
. . . . . . g.28267
GATGAATATCATTCAGTGCATCAGAAGCTCAGTGCTGATATGGCTGATCATTCTAATTTG c.1860
D E Y H S V H Q K L S A D M A D H S N L p.620
. . . . . | 16 . g.39555
ATCCGAAGTTTGCTGGTCGGAGCTGAGGATGCTCGTCTGATGAGGGACAT | GAAAACAATG c.1920
I R S L L V G A E D A R L M R D M | K T M p.640
. . . . . . g.39615
AAGAGTCGTTATATGGAACTCTATGACCTTAATAGAGACTTGCTAAATGGATATAAAATT c.1980
K S R Y M E L Y D L N R D L L N G Y K I p.660
. . . . . . g.39675
CGCTGTAACAATCACACAGAGCTGTTGGGAAACCTCAAAGCAGTAAATCAAGCAATTCAA c.2040
R C N N H T E L L G N L K A V N Q A I Q p.680
. | 17 . . . . g.40457
AGAGCAGGTCGTCTGCGGG | TTGGAAAACCAAAGAACCAGGTGATCACTGCTTGTCGGGAT c.2100
R A G R L R V | G K P K N Q V I T A C R D p.700
. . . . . . g.40517
GCAATTCGAAGCAATAACATCAACACACTGTTCAAAATCATGCGAGTGGGGACAGCTTCT c.2160
A I R S N N I N T L F K I M R V G T A S p.720
g.40523
TCCTAG c.2166
S X p.721
. . . . . . g.40583
gtgaggaaaatacaggtcatgaagttcctggcaaagattttctgttaaaaacctatgctg c.*60
. . . . . . g.40643
gtttgctttggatcacaccctggtgaaccccgggtgctaagaatgaaaataaccttggtg c.*120
. . . . . . g.40703
agttgtacaaattaaagacaaagaactacatgtgaagatagacttgctttctatttttaa c.*180
. . . . . . g.40763
atcagtagtagtactgttgctgaataatactaggtttttatggaataggatgaatgcttt c.*240
. . . . . . g.40823
tgaagtattagggcttcagagtccaattttgcttatttatggtatataaatacatatttt c.*300
. . . . . . g.40883
tttcttgaaattgcaattgagtttgtacttttcaaatagattatctactttttcattaaa c.*360
. . . . . g.40937
atgtaaagatgttaaactttgtgttgattgattataaaatcaccaccaaatcag c.*414
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center