Adrenoleukodystrophy (ALD) ranges in severity from Childhood Cerebral Demyelinating ALD, which results in death within 5 years, to asymptomatic ALD, which people do not even realize they have. Mandatory newborn testing for ALD has recently been implemented in 5 states (New York, Connecticut, California, Pennsylvania, and Minnesota) with 19 more states making plans to do so and federal government recommending all states do so. As a result of this new testing, more people are finding out they have some form of ALD and new mutations are being discovered. Though the effects of the more devastating forms are better known, little is known about the effects and prevalence of many other forms. We created this website as a place for those who have learned what their genetic mutation is and are searching for more information. By allowing people to share their information with each other, we hope to make this new information less scary. Below you will find links to other resources and a list of all mutations with unknown effects.

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If you are new to ALD, use our Links and Resources page for more information.

Genetic Mutations with Unknown Effects

Some mutations are known to be pathogenic (causing disease), while others are known to be benign (do not cause disease), but for many mutations the implications are not clear. There are also cases where the same mutations has resulted in different effects, even in the same family. So finding someone else with the same mutation does not guarantee you will have the same phenotype, but it will help us all learn more about this complex disease. The following mutations are not known to be benign or pathogenic. If you have one of these mutations, please consider sharing the effects you have observed experience in the comments. You can find the rest of the known mutations at the ALD Database.

Please consider using our Share Form to share your own anonymous information with the ALD community.

Mutation (DNA)	Mutation (Protein)	Shared User Information
c.-10C>T
c.19C>T	p.Pro7Ser
c.30G>C	p.Trp10Cys
c.32G>C	p.Arg11Pro
c.40A>G	p.Thr14Ala
c.92A>G	p.Lys31Arg
c.95T>C	p.Val32Ala
c.100C>T	p.Pro34Ser
c.143C>T	p.Ala48Val
c.173C>G	p.Ser58Cys
c.173C>T	p.Ser58Phe
c.181G>A	p.Ala61Thr
c.206G>A	p.Arg69Gln
c.208G>A	p.Val70Ile
c.231G>T	p.Trp77Cys
c.241C>G	p.Leu81Val
c.254G>T	p.Arg85Leu
c.256G>A	p.Val86Ile
c.265C>T	p.Arg89Trp
c.266G>A	p.Arg89Gln
c.275G>T	p.Gly92Val
c.326T>C	p.Val109Ala
c.355G>T	p.Ala119Ser
c.358C>G	p.Arg120Gly
c.359G>A	p.Arg120His
c.371G>A	p.Arg124His
c.382C>T	p.Arg128Trp
c.383G>C	p.Arg128Pro
c.383G>A	p.Arg128Gln
c.389T>G	p.Phe130Cys
c.391G>C	p.Gly131Arg
c.407A>G	p.Gln136Arg
c.424C>G	p.Leu142Val
c.436T>G	p.Phe146Val
c.439G>A	p.Val147Ile
c.443A>T	p.Asn148Ile
c.455G>A	p.Arg152His
c.472C>G	p.Leu158Val
c.475G>A	p.Ala159Thr
c.476C>G	p.Ala159Gly
c.493C>T	p.Arg165Cys
c.508G>A	p.Ala170Thr
c.511T>C	p.Tyr171His
c.514C>T	p.Arg172Cys
c.515G>A	p.Arg172His
c.526T>A	p.Ser176Thr
c.535A>T	p.Thr179Ser
c.538T>C	p.Tyr180His
c.542A>T	p.Tyr181Phe
c.555C>A	p.Asn185Lys
c.562G>A	p.Gly188Arg
c.563G>C	p.Gly188Ala
c.572G>A	p.Arg191His
c.577C>T	p.Pro193Ser
c.614C>T	p.Ala205Val
c.628C>T	p.His210Tyr
c.664G>A	p.Val222Met
c.667G>C	p.Ala223Pro
c.668C>T	p.Ala223Val
c.673A>G	p.Thr225Ala
c.674C>T	p.Thr225Ile
c.679T>C	p.Tyr227His
c.683C>A	p.Thr228Asn
c.692G>A	p.Arg231Gln
c.700C>T	p.Arg234Cys
c.701G>A	p.Arg234His
c.710G>T	p.Gly237Val
c.712G>A	p.Ala238Thr
c.715G>A	p.Gly239Ser
c.731C>T	p.Ser244Leu
c.739G>A	p.Ala247Thr
c.742G>A	p.Gly248Ser
c.763G>A	p.Ala255Thr
c.769G>A	p.Val257Met
c.776G>A	p.Arg259Gln
c.778G>A	p.Ala260Thr
c.790A>C	p.Lys264Gln
c.809C>T	p.Ala270Val
c.820C>T	p.Arg274Trp
c.821G>A	p.Arg274Gln
c.832G>A	p.Glu278Lys
c.838C>A	p.Arg280Ser
c.839G>A	p.Arg280His
851C>G	p.Ser284Trp
c.853C>A	p.Arg285Ser
c.854G>A	p.Arg285His
c.859G>T	p.Val287Leu
c.900+12T>A
c.900+27G>A
c.900+30G>A
c.901-9C>A
c.901-4G>A
c.910G>A	p.Ala304Thr
c.913C>T	p.Leu305Leu
c.922C>T	p.Arg308Cys
c.923G>A	p.Arg308His
c.936C>G	p.Asp312Glu
c.944C>T	p.Ser315Leu
c.953A>G	p.Asn318Ser
c.964C>A	p.Leu322Met
c.968A>T	p.Glu323Val
c.970C>T	p.Arg324Cys
c.971G>A	p.Arg324His
c.985A>C	p.Met329Leu
c.986T>C	p.Met329Thr
c.1021G>A	p.Ala341Thr
c.1021G>T	p.Ala341Ser
c.1025C>T	p.Ser342Leu
c.1036A>G	p.Met346Val
c.1081+8C>T
c.1082-31C>T
c.1082-27G>A
c.1082-20A>G
c.1082-15T>C
c.1082A>G	p.Asp361Gly
c.1083T>A	p.Asp361Glu
c.1084G>A	p.Ala362Thr
c.1093G>A	p.Val365Met
c.1093G>C	p.Val365Leu
c.1094T>A	p.Val365Glu
c.1097A>G	p.Lys366Arg
c.1113A>C	p.Glu371Asp
c.1119G>C	p.Lys373Asn
c.1120G>A	p.Glu374Lys
c.1126G>C	p.Glu376Gln
c.1138G>A	p.Glu380Lys
c.1141C>T	p.Arg381Cys
c.1142G>A	p.Arg381His
c.1150G>A	p.Ala384Thr
c.1151C>G	p.Ala384Gly
c.1156A>G	p.Thr386Ala
c.1156A>T	p.Thr386Ser
c.1172T>G	p.Leu391Arg
c.1190A>G	p.Asp397Gly
c.1211C>T	p.Ser404Leu
c.1224+5C>T
c.1225-26G>T
c.1225-9C>T
c.1225-8T>A
c.1228A>T	p.Thr410Ser
c.1229C>A	p.Thr410Lys
c.1229C>T	p.Thr410Met
c.1238C>G	p.Ala413Gly
c.1253G>A	p.Arg418Gln
c.1255G>A	p.Val419Met
c.1255G>C	p.Val419Leu
c.1260C>A	p.His420Gln
c.1261G>A	p.Glu421Lys
c.1267T>A	p.Phe423Ile
c.1273G>A	p.Val425Ile
c.1291C>T	p.Arg431Cys
c.1292G>A	p.Arg431His
c.1295G>A	p.Cys432Tyr
c.1304A>G	p.Lys435Arg
c.1326C>G	p.Asp442Glu
c.1327G>A	p.Ala443Thr
c.1334C>T	p.Ala445Val
c.1350A>G	p.Ile450Met
c.1355G>T	p.Arg452Leu
c.1355G>A	p.Arg452Gln
c.1366C>T	p.Arg456Cys
c.1367G>A	p.Arg456His
c.1367G>T	p.Arg456Leu
c.1367G>C	p.Arg456Pro
c.1369G>C	p.Val457Leu
c.1387A>T	p.Ile463Phe
c.1391G>A	p.Arg464Gln
c.1391G>C	p.Arg464Pro
c.1399G>A	p.Val467Met
c.1402G>A	p.Val468Met
c.1426T>G	p.Cys476Gly
c.1428C>G	p.Cys476Trp
c.1429G>A	p.Glu477Lys
c.1441A>G	p.Ile481Val
c.1444G>A	p.Val482Ile
c.1456G>A	p.Gly486Arg
c.1487G>C	p.Arg496Thr
c.1489-9C>T
c.1489G>A	p.Val497Met
c.1526A>G	p.Asn509Ser
c.1588G>A	p.Val530Met
c.1597A>C	p.Lys533Gln
c.1611G>C	p.Gln537His
c.1612C>T	p.Arg538Cys
c.1613G>A	p.Arg538His
c.1615A>C	p.Met539Leu
c.1615A>T	p.Met539Leu
c.1617G>A	p.Met539Ile
c.1620C>G	p.Phe540Leu
c.1634G>A	p.Arg545Lys
c.1634+4A>G
c.1634+5G>C
c.1635-6C>T
c.1670T>C	p.Val557Ala
c.1694A>G	p.Asp565Gly
c.1714T>C	p.Ser572Pro
c.1715C>T	p.Ser572Leu
c.1732G>A	p.Ala578Thr
c.1744G>T	p.Val582Phe
c.1747G>A	p.Val583Met
c.1750C>T	p.His584Tyr
c.1769A>T	p.Gln590Leu
c.1790C>G	p.Ala597Gly
c.1792A>G	p.Met598Val
c.1794G>T	p.Met598Ile
c.1823G>A	p.Gly608Asp
c.1840G>A	p.Gly614Ser
c.1862A>T	p.His621Leu
c.1866-5C>T
c.1870A>G	p.Lys624Glu
c.1876G>T	p.Ala626Ser
c.1900G>T	p.Ala634Ser
c.1909A>G	p.Ile637Val
c.1915G>A	p.Val639Met
c.1979G>T	p.Arg660Leu
c.1991+5G>T
c.1991+7G>A
c.1994A>C	p.Lys665Thr
c.2019C>G	p.Phe673Leu
c.2020G>A	p.Asp674Asn
c.2023G>T	p.Gly675Trp
c.2032G>A	p.Gly678Ser
c.2033G>A	p.Gly678Asp
c.2073C>G	p.Ser691Arg
c.2087A>T	p.Lys696Met
c.2090A>G	p.Gln697Arg
c.2111C>T	p.Ala704Val
c.2123A>G	p.Lys708Arg
c.2127G>A	p.Met709Ile
c.2131C>T	p.Arg711Trp
c.2132G>A	p.Arg711Gln
c.2135G>C	p.Arg712Pro
c.2138T>C	p.Leu713Pro
c.2143G>A	p.Glu715Lys
c.2158C>G	p.Leu720Val
c.2173G>A	p.Ala725Thr
c.2185G>A	p.Val729Met
c.2189C>T	p.Pro730Leu
c.2201C>G	p.Pro734Arg
c.2201C>T	p.Pro734Leu
c.2209C>T	p.Pro737Ser
c.2222A>G	p.Gln741Arg
c.2225G>T	p.Gly742Val
c.2233A>C	p.Thr745Pro
c.2238*1C>T
c.2238*7C>T

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