HPRT gene

The region in which the hprt gene is located on the long arm of the X-chromosome (Xq26.1) is shown in red.
The genetic code.

The hprt gene is located on the long arm of the X chromosome, it's exact position is at Xq26.1.

The information in a gene is coded as a chain of four letters (A, G, C, and T), which are abbreviations for four corresponding molecules (adenine, guanine, cytosine and thymine) residues, in a specific order. Body cells use this information to assemble proteins from amino acids. Proteins form the machinery of a cell, and each protein serves a specific function. See here for more information on what the protein HPRT does.

The following table shows the genetic code for the hprt gene and the amino acid sequence for the protein. Using the genetic code, it is possible to predict the amino acid changes for specific mutations. A detailed list of known mutations is available in the Research section.

HPRT code

exonpositionbasecodonaminoacid
11A1met
12T1met
13G1met
14G2ala
15C2ala
16G2ala
17A3thr
18C3thr
19C3thr
110C4arg
111G4arg
112C4arg
113A5ser
114G5ser
115C5ser
116C6pro
117C6pro
118T6pro
119G7gly
120G7gly
121C7gly
122G8val
123T8val
124C8val
125G9val
126T9val
127G9val
228A10ile
229T10ile
230T10ile
231A11ser
232G11ser
233T11ser
234G12asp
235A12asp
236T12asp
237G13asp
238A13asp
239T13asp
240G14glu
241A14glu
242A14glu
243C15pro
244C15pro
245A15pro
246G16gly
247G16gly
248T16gly
249T17tyr
250A17tyr
251T17tyr
252G18asp
253A18asp
254C18asp
255C19leu
256T19leu
257T19leu
258G20asp
259A20asp
260T20asp
261T21leu
262T21leu
263A21leu
264T22phe
265T22phe
266T22phe
267T23cys
268G23cys
269C23cys
270A24ile
271T24ile
272A24ile
273C25pro
274C25pro
275T25pro
276A26asn
277A26asn
278T26asn
279C27his
280A27his
281T27his
282T28tyr
283A28tyr
284T28tyr
285G29ala
286C29ala
287T29ala
288G30glu
289A30glu
290G30glu
291G31asp
292A31asp
293T31asp
294T32leu
295T32leu
296G32leu
297G33glu
298A33glu
299A33glu
2100A34arg
2101G34arg
2102G34arg
2103G35val
2104T35val
2105G35val
2106T36phe
2107T36phe
2108T36phe
2109A37ile
2110T37ile
2111T37ile
2112C38pro
2113C38pro
2114T38pro
2115C39his
2116A39his
2117T39his
2118G40gly
2119G40gly
2120A40gly
2121C41leu
2122T41leu
2123A41leu
2124A42ile
2125T42ile
2126T42ile
2127A43met
2128T43met
2129G43met
2130G44asp
2131A44asp
2132C44asp
2133A45arg
2134G45arg
3135G45arg
3136A46thr
3137C46thr
3138T46thr
3139G47glu
3140A47glu
3141A47glu
3142C48arg
3143G48arg
3144T48arg
3145C49leu
3146T49leu
3147T49leu
3148G50ala
3149C50ala
3150T50ala
3151C51arg
3152G51arg
3153A51arg
3154G52asp
3155A52asp
3156T52asp
3157G53val
3158T53val
3159G53val
3160A54met
3161T54met
3162G54met
3163A55lys
3164A55lys
3165G55lys
3166G56glu
3167A56glu
3168G56glu
3169A57met
3170T57met
3171G57met
3172G58gly
3173G58gly
3174A58gly
3175G59gly
3176G59gly
3177C59gly
3178C60his
3179A60his
3180T60his
3181C61his
3182A61his
3183C61his
3184A62ile
3185T62ile
3186T62ile
3187G63val
3188T63val
3189A63val
3190G64ala
3191C64ala
3192C64ala
3193C65leu
3194T65leu
3195C65leu
3196T66cys
3197G66cys
3198T66cys
3199G67val
3200T67val
3201G67val
3202C68leu
3203T68leu
3204C68leu
3205A69lys
3206A69lys
3207G69lys
3208G70gly
3209G70gly
3210G70gly
3211G71gly
3212G71gly
3213C71gly
3214T72tyr
3215A72tyr
3216T72tyr
3217A73lys
3218A73lys
3219A73lys
3220T74phe
3221T74phe
3222C74phe
3223T75phe
3224T75phe
3225T75phe
3226G76ala
3227C76ala
3228T76ala
3229G77asp
3230A77asp
3231C77asp
3232C78leu
3233T78leu
3234G78leu
3235C79leu
3236T79leu
3237G79leu
3238G80asp
3239A80asp
3240T80asp
3241T81tyr
3242A81tyr
3243C81tyr
3244A82ile
3245T82ile
3246C82ile
3247A83lys
3248A83lys
3249A83lys
3250G84ala
3251C84ala
3252A84ala
3253C85leu
3254T85leu
3255G85leu
3256A86asn
3257A86asn
3258T86asn
3259A87arg
3260G87arg
3261A87arg
3262A88asn
3263A88asn
3264T88asn
3265A89ser
3266G89ser
3267T89ser
3268G90asp
3269A90asp
3270T90asp
3271A91arg
3272G91arg
3273A91arg
3274T92ser
3275C92ser
3276C92ser
3277A93ile
3278T93ile
3279T93ile
3280C94pro
3281C94pro
3282T94pro
3283A95met
3284T95met
3285G95met
3286A96thr
3287C96thr
3288T96thr
3289G97val
3290T97val
3291A97val
3292G98asp
3293A98asp
3294T98asp
3295T99phe
3296T99phe
3297T99phe
3298A100ile
3299T100ile
3300C100ile
3301A101arg
3302G101arg
3303A101arg
3304C102leu
3305T102leu
3306G102leu
3307A103lys
3308A103lys
3309G103lys
3310A104ser
3311G104ser
3312C104ser
3313T105tyr
3314A105tyr
3315T105tyr
3316T106cys
3317G106cys
3318T106cys
4319A107asn
4320A107asn
4321T107asn
4322G108asp
4323A108asp
4324C108asp
4325C109gln
4326A109gln
4327G109gln
4328T110ser
4329C110ser
4330A110ser
4331A111thr
4332C111thr
4333A111thr
4334G112gly
4335G112gly
4336G112gly
4337G113asp
4338A113asp
4339C113asp
4340A114ile
4341T114ile
4342A114ile
4343A115lys
4344A115lys
4345A115lys
4346G116val
4347T116val
4348A116val
4349A117ile
4350T117ile
4351T117ile
4352G118gly
4353G118gly
4354T118gly
4355G119gly
4356G119gly
4357A119gly
4358G120asp
4359A120asp
4360T120asp
4361G121asp
4362A121asp
4363T121asp
4364C122leu
4365T122leu
4366C122leu
4367T123ser
4368C123ser
4369A123ser
4370A124thr
4371C124thr
4372T124thr
4373T125leu
4374T125leu
4375A125leu
4376A126thr
4377C126thr
4378T126thr
4379G127gly
4380G127gly
4381A127gly
4382A128lys
4383A128lys
4384G128lys
5385A129asn
5386A129asn
5387T129asn
5388G130val
5389T130val
5390C130val
5391T131leu
5392T131leu
5393G131leu
5394A132ile
5395T132ile
5396T132ile
5397G133val
5398T133val
5399G133val
5400G134glu
5401A134glu
5402A134glu
6403G135asp
6404A135asp
6405T135asp
6406A136ile
6407T136ile
6408A136ile
6409A137ile
6410T137ile
6411T137ile
6412G138asp
6413A138asp
6414C138asp
6415A139thr
6416C139thr
6417T139thr
6418G140gly
6419G140gly
6420C140gly
6421A141lys
6422A141lys
6423A141lys
6424A142thr
6425C142thr
6426A142thr
6427A143met
6428T143met
6429G143met
6430C144gln
6431A144gln
6432G144gln
6433A145thr
6434C145thr
6435T145thr
6436T146leu
6437T146leu
6438G146leu
6439C147leu
6440T147leu
6441T147leu
6442T148ser
6443C148ser
6444C148ser
6445T149leu
6446T149leu
6447G149leu
6448G150val
6449T150val
6450C150val
6451A151arg
6452G151arg
6453G151arg
6454C152gln
6455A152gln
6456G152gln
6457T153tyr
6458A153tyr
6459T153tyr
6460A154asn
6461A154asn
6462T154asn
6463C155pro
6464C155pro
6465A155pro
6466A156lys
6467A156lys
6468G156lys
6469A157met
6470T157met
6471G157met
6472G158val
6473T158val
6474C158val
6475A159lys
6476A159lys
6477G159lys
6478G160val
6479T160val
6480C160val
6481G161ala
6482C161ala
6483A161ala
6484A162ser
6485G162ser
7486C162ser
7487T163leu
7488T163leu
7489G163leu
7490C164leu
7491T164leu
7492G164leu
7493G165val
7494T165val
7495G165val
7496A166lys
7497A166lys
7498A166lys
7499A167arg
7500G167arg
7501G167arg
7502A168thr
7503C168thr
7504C168thr
7505C169pro
7506C169pro
7507A169pro
7508C170arg
7509G170arg
7510A170arg
7511A171ser
7512G171ser
7513T171ser
7514G172val
7515T172val
7516T172val
7517G173gly
7518G173gly
7519A173gly
7520T174tyr
7521A174tyr
7522T174tyr
7523A175lys
7524A175lys
7525G175lys
7526C176pro
7527C176pro
7528A176pro
7529G177asp
7530A177asp
7531C177asp
7532T178phe
8533T178phe
8534T178phe
8535G179val
8536T179val
8537T179val
8538G180gly
8539G180gly
8540A180gly
8541T181phe
8542T181phe
8543T181phe
8544G182glu
8545A182glu
8546A182glu
8547A183ile
8548T183ile
8549T183ile
8550C184pro
8551C184pro
8552A184pro
8553G185asp
8554A185asp
8555C185asp
8556A186lys
8557A186lys
8558G186lys
8559T187phe
8560T187phe
8561T187phe
8562G188val
8563T188val
8564T188val
8565G189val
8566T189val
8567A189val
8568G190gly
8569G190gly
8570A190gly
8571T191tyr
8572A191tyr
8573T191tyr
8574G192ala
8575C192ala
8576C192ala
8577C193leu
8578T193leu
8579T193leu
8580G194asp
8581A194asp
8582C194asp
8583T195tyr
8584A195tyr
8585T195tyr
8586A196asn
8587A196asn
8588T196asn
8589G197glu
8590A197glu
8591A197glu
8592T198tyr
8593A198tyr
8594C198tyr
8595T199phe
8596T199phe
8597C199phe
8598A200arg
8599G200arg
8600G200arg
8601G201asp
8602A201asp
8603T201asp
8604T202leu
8605T202leu
8606G202leu
8607A203asn
8608A203asn
8609T203asn
9610C204his
9611A204his
9612T204his
9613G205val
9614T205val
9615T205val
9616T206cys
9617G206cys
9618T206cys
9619G207val
9620T207val
9621C207val
9622A208ile
9623T208ile
9624T208ile
9625A209ser
9626G209ser
9627T209ser
9628G210glu
9629A210glu
9630A210glu
9631A211thr
9632C211thr
9633T211thr
9634G212gly
9635G212gly
9636A212gly
9637A213lys
9638A213lys
9639A213lys
9640G214ala
9641C214ala
9642A214ala
9643A215lys
9644A215lys
9645A215lys
9646T216tyr
9647A216tyr
9648C216tyr
9649A217lys
9650A217lys
9651A217lys
9652G218ala
9653C218ala
9654C218ala
9655T219stop
9656A219stop
9657A219stop


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