                         SEQUENCE LISTING

<110>  University of Rochester
       The Trustees of Columbia University in the City of New York
       Yang, Tingting
       Zhang, Yu
       Tsang, Stephen
 
<120>  Gene Therapy for BEST1 Dominant Mutations

<130>  204606-0108-00WO

<150>  US 62/785,739
<151>  2018-12-28

<150>  US 62/833,069
<151>  2019-04-12

<160>  2     

<170>  PatentIn version 3.5

<210>  1
<211>  585
<212>  PRT
<213>  Homo sapiens

<400>  1

Met Thr Ile Thr Tyr Thr Ser Gln Val Ala Asn Ala Arg Leu Gly Ser 
1               5                   10                  15      


Phe Ser Arg Leu Leu Leu Cys Trp Arg Gly Ser Ile Tyr Lys Leu Leu 
            20                  25                  30          


Tyr Gly Glu Phe Leu Ile Phe Leu Leu Cys Tyr Tyr Ile Ile Arg Phe 
        35                  40                  45              


Ile Tyr Arg Leu Ala Leu Thr Glu Glu Gln Gln Leu Met Phe Glu Lys 
    50                  55                  60                  


Leu Thr Leu Tyr Cys Asp Ser Tyr Ile Gln Leu Ile Pro Ile Ser Phe 
65                  70                  75                  80  


Val Leu Gly Phe Tyr Val Thr Leu Val Val Thr Arg Trp Trp Asn Gln 
                85                  90                  95      


Tyr Glu Asn Leu Pro Trp Pro Asp Arg Leu Met Ser Leu Val Ser Gly 
            100                 105                 110         


Phe Val Glu Gly Lys Asp Glu Gln Gly Arg Leu Leu Arg Arg Thr Leu 
        115                 120                 125             


Ile Arg Tyr Ala Asn Leu Gly Asn Val Leu Ile Leu Arg Ser Val Ser 
    130                 135                 140                 


Thr Ala Val Tyr Lys Arg Phe Pro Ser Ala Gln His Leu Val Gln Ala 
145                 150                 155                 160 


Gly Phe Met Thr Pro Ala Glu His Lys Gln Leu Glu Lys Leu Ser Leu 
                165                 170                 175     


Pro His Asn Met Phe Trp Val Pro Trp Val Trp Phe Ala Asn Leu Ser 
            180                 185                 190         


Met Lys Ala Trp Leu Gly Gly Arg Ile Arg Asp Pro Ile Leu Leu Gln 
        195                 200                 205             


Ser Leu Leu Asn Glu Met Asn Thr Leu Arg Thr Gln Cys Gly His Leu 
    210                 215                 220                 


Tyr Ala Tyr Asp Trp Ile Ser Ile Pro Leu Val Tyr Thr Gln Val Val 
225                 230                 235                 240 


Thr Val Ala Val Tyr Ser Phe Phe Leu Thr Cys Leu Val Gly Arg Gln 
                245                 250                 255     


Phe Leu Asn Pro Ala Lys Ala Tyr Pro Gly His Glu Leu Asp Leu Val 
            260                 265                 270         


Val Pro Val Phe Thr Phe Leu Gln Phe Phe Phe Tyr Val Gly Trp Leu 
        275                 280                 285             


Lys Val Ala Glu Gln Leu Ile Asn Pro Phe Gly Glu Asp Asp Asp Asp 
    290                 295                 300                 


Phe Glu Thr Asn Trp Ile Val Asp Arg Asn Leu Gln Val Ser Leu Leu 
305                 310                 315                 320 


Ala Val Asp Glu Met His Gln Asp Leu Pro Arg Met Glu Pro Asp Met 
                325                 330                 335     


Tyr Trp Asn Lys Pro Glu Pro Gln Pro Pro Tyr Thr Ala Ala Ser Ala 
            340                 345                 350         


Gln Phe Arg Arg Ala Ser Phe Met Gly Ser Thr Phe Asn Ile Ser Leu 
        355                 360                 365             


Asn Lys Glu Glu Met Glu Phe Gln Pro Asn Gln Glu Asp Glu Glu Asp 
    370                 375                 380                 


Ala His Ala Gly Ile Ile Gly Arg Phe Leu Gly Leu Gln Ser His Asp 
385                 390                 395                 400 


His His Pro Pro Arg Ala Asn Ser Arg Thr Lys Leu Leu Trp Pro Lys 
                405                 410                 415     


Arg Glu Ser Leu Leu His Glu Gly Leu Pro Lys Asn His Lys Ala Ala 
            420                 425                 430         


Lys Gln Asn Val Arg Gly Gln Glu Asp Asn Lys Ala Trp Lys Leu Lys 
        435                 440                 445             


Ala Val Asp Ala Phe Lys Ser Ala Pro Leu Tyr Gln Arg Pro Gly Tyr 
    450                 455                 460                 


Tyr Ser Ala Pro Gln Thr Pro Leu Ser Pro Thr Pro Met Phe Phe Pro 
465                 470                 475                 480 


Leu Glu Pro Ser Ala Pro Ser Lys Leu His Ser Val Thr Gly Ile Asp 
                485                 490                 495     


Thr Lys Asp Lys Ser Leu Lys Thr Val Ser Ser Gly Ala Lys Lys Ser 
            500                 505                 510         


Phe Glu Leu Leu Ser Glu Ser Asp Gly Ala Leu Met Glu His Pro Glu 
        515                 520                 525             


Val Ser Gln Val Arg Arg Lys Thr Val Glu Phe Asn Leu Thr Asp Met 
    530                 535                 540                 


Pro Glu Ile Pro Glu Asn His Leu Lys Glu Pro Leu Glu Gln Ser Pro 
545                 550                 555                 560 


Thr Asn Ile His Thr Thr Leu Lys Asp His Met Asp Pro Tyr Trp Ala 
                565                 570                 575     


Leu Glu Asn Arg Asp Glu Ala His Ser 
            580                 585 


<210>  2
<211>  1755
<212>  DNA
<213>  Homo sapiens

<400>  2
atgaccatca cttacacaag ccaagtggct aatgcccgct taggctcctt ctcccgcctg       60

ctgctgtgct ggcggggcag catctacaag ctgctatatg gcgagttctt aatcttcctg      120

ctctgctact acatcatccg ctttatttat aggctggccc tcacggaaga acaacagctg      180

atgtttgaga aactgactct gtattgcgac agctacatcc agctcatccc catttccttc      240

gtgctgggct tctacgtgac gctggtcgtg acccgctggt ggaaccagta cgagaacctg      300

ccgtggcccg accgcctcat gagcctggtg tcgggcttcg tcgaaggcaa ggacgagcaa      360

ggccggctgc tgcggcgcac gctcatccgc tacgccaacc tgggcaacgt gctcatcctg      420

cgcagcgtca gcaccgcagt ctacaagcgc ttccccagcg cccagcacct ggtgcaagca      480

ggctttatga ctccggcaga acacaagcag ttggagaaac tgagcctacc acacaacatg      540

ttctgggtgc cctgggtgtg gtttgccaac ctgtcaatga aggcgtggct tggaggtcga      600

atccgggacc ctatcctgct ccagagcctg ctgaacgaga tgaacacctt gcgtactcag      660

tgtggacacc tgtatgccta cgactggatt agtatcccac tggtgtatac acaggtggtg      720

actgtggcgg tgtacagctt cttcctgact tgtctagttg ggcggcagtt tctgaaccca      780

gccaaggcct accctggcca tgagctggac ctcgttgtgc ccgtcttcac gttcctgcag      840

ttcttcttct atgttggctg gctgaaggtg gcagagcagc tcatcaaccc ctttggagag      900

gatgatgatg attttgagac caactggatt gtcgacagga atttgcaggt gtccctgttg      960

gctgtggatg agatgcacca ggacctgcct cggatggagc cggacatgta ctggaataag     1020

cccgagccac agccccccta cacagctgct tccgcccagt tccgtcgagc ctcctttatg     1080

ggctccacct tcaacatcag cctgaacaaa gaggagatgg agttccagcc caatcaggag     1140

gacgaggagg atgctcacgc tggcatcatt ggccgcttcc taggcctgca gtcccatgat     1200

caccatcctc ccagggcaaa ctcaaggacc aaactactgt ggcccaagag ggaatccctt     1260

ctccacgagg gcctgcccaa aaaccacaag gcagccaaac agaacgttag gggccaggaa     1320

gacaacaagg cctggaagct taaggctgtg gacgccttca agtctgcccc actgtatcag     1380

aggccaggct actacagtgc cccacagacg cccctcagcc ccactcccat gttcttcccc     1440

ctagaaccat cagcgccgtc aaagcttcac agtgtcacag gcatagacac caaagacaaa     1500

agcttaaaga ctgtgagttc tggggccaag aaaagttttg aattgctctc agagagcgat     1560

ggggccttga tggagcaccc agaagtatct caagtgagga ggaaaactgt ggagtttaac     1620

ctgacggata tgccagagat ccccgaaaat cacctcaaag aacctttgga acaatcacca     1680

accaacatac acactacact caaagatcac atggatcctt attgggcctt ggaaaacagg     1740

gatgaagcac attcc                                                      1755


