LOVD - Legend for PLP1



Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12.

Genomic Reference Sequence.

NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter.

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown.

Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9

DNA change: Variation at DNA level.

Var_pub_as: What the variant was reported as (e.g. 521delT); listed only when different from "DNA change".

RNA change: Effect of change on RNA.
  • = = RNA change identical to DNA change
  • ? = unknown
  • (=) = no significant effect expected (but no experimental proof)
  • (0) = change expected to abolish transcription
  • (ex4ex5del) = probably deletion of exons 4 to 5
  • (ex4ex5dup) = probably duplication of exons 4 to 5
  • +cry = activation of cryptic splice site (no sequence published)
  • spl? = effect on splicing very likely (no experimental proof), examples;
    • splice donor site change (nucleotides +1 to +5 affected)
    • splice acceptor site change (nucleotides -2 to -1 affected)
    • new intronic AG splice acceptor di-nucleotide created close to (within 15 nucleotides) of normal splice acceptor site
  • (spl?) = might affect splicing (no experimental proof), examples;
    • change affects first or last nucleotide of exon
    • change creates strong splice donor or splice acceptor site in exon


Protein: Predicted effect of change on protein (usually without experimental proof!)
  • ? = unknown
  • (0) = change expected to abolish translation
  • ?fs = frame shift, but observed phenotype does not fit with prediction (for instance less severe phenotype (BMD) observed, more severe phenotype (DMD) expected)
  • ?no fs = frame shift, but observed phenotype does not fit with prediction (for instance more severe phenotype (DMD) observed, less severe phenotype (BMD) expected)
  • del = causes deletion
  • fs = causes frame shift
  • fs? = effect on reading frame very likely (no experimental proof)
  • (fs?) = might affect the reading frame (no experimental proof)
  • no fs = does not cause frame shift
  • X = stop codon (nonsense)


PLP1 DB-ID: BD-ID = database IDentifier

Variant remarks: Variant remarks

Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences
  • unknown
  • germline (inherited)
  • somatic
  • de novo
  • uniparental disomy
  • uniparental disomy, maternal allele
  • uniparental disomy, paternal allele
  • in vitro (cloned)

Segr.: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?)
  • ? = unknown
  • yes = segregates with disease
  • no = does not segregate with disease

Reference: Reference = reference to publication describing variant

Template: Detection_Template
  • ? = unknown
  • DNA = DNA
  • RNA = RNA
  • protein = protein

Technique: Technique = technique(s) used to identify the sequence variants; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads (e.g. 47/96 reads, 123/123 reads) showing the variant, select another Technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ).
  • ? = unknown
  • arrayCGH = array for Comparative Genomic Hybridisation
  • arraySEQ = array for resequencing
  • arraySNP = array for SNP typing
  • arrayCNV = array for Copy Number Variation (SNP and CNV probes)
  • BESS = Base Excision Sequence Scanning
  • CMC = Chemical Mismatch Cleavage
  • CSCE = Conformation Sensitive Capillary Electrophoresis
  • ddF = dideoxy Fingerprinting
  • DGGE = Denaturing-Gradient Gel-Electrophoresis
  • DHPLC = Denaturing High-Performance Liquid Chromatography
  • DOVAM = Detection Of Virtually All Mutations (SSCA variant)
  • DSCA = Double-Strand DNA Conformation Analysis
  • EMC = Enzymatic Mismatch Cleavage
  • FISH = Fluorescent In-Situ Hybridisation
  • HD = HeteroDuplex analysis
  • IHC = Immuno-Histo-Chemistry
  • MAPH = Multiplex Amplifiable Probe Hybridisation
  • MCA = high-resolution Melting Curve Analysis (hrMCA)
  • MLPA = Multiplex Ligation-dependent Probe Amplification
  • Northern = Northern blotting
  • PAGE = Poly-Acrylamide Gel-Electrophoresis
  • PCR = Polymerase Chain Reaction
  • PCRdig = PCR + restriction enzyme digestion
  • PCRlr = PCR, long-range
  • PCRm = PCR, multiplex
  • PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
  • PTT = Protein Truncation Test
  • RT-PCR = Reverse Transcription and PCR
  • SBE = Single Base Extension
  • SEQ = SEQuencing
  • SEQ-NG-H = next-generation sequencing - Helicos
  • SEQ-NG-I = next-generation sequencing - Illumina/Solexa
  • SEQ-NG-R = next-generation sequencing - Roche/454
  • SEQ-NG-S = next-generation sequencing - SOLiD
  • Southern = Southern blotting
  • SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
  • SSCAf = fluorescent SSCA (SSCP)
  • TaqMan = TaqMan assay
  • Western = Western Blotting

Frequency: Frequency of non pathogenic variant reported listed as number of variant alleles/number of control alleles tested, like 5/132.

Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.

Disease: Disease phenotype

Phenotype additional: Phenotype, additional features

Remarks: Remarks

Reference: Reference describing the phenotype

Geographic origin: Geographic origin of patient
  • ? (unknown)
  • - (not applicable)
  • Afghanistan
  • (Afghanistan)
  • Albania
  • (Albania)
  • Algeria
  • (Algeria)
  • American Samoa
  • (American Samoa)
  • Andorra
  • (Andorra)
  • Angola
  • (Angola)
  • Anguilla
  • (Anguilla)
  • Antarctica
  • (Antarctica)
  • Antigua and Barbuda
  • (Antigua and Barbuda)
  • Argentina
  • (Argentina)
  • Armenia
  • (Armenia)
  • Aruba
  • (Aruba)
  • Australia
  • (Australia)
  • Austria
  • (Austria)
  • Azerbaijan
  • (Azerbaijan)
  • Bahamas
  • (Bahamas)
  • Bahrain
  • (Bahrain)
  • Bangladesh
  • (Bangladesh)
  • Barbados
  • (Barbados)
  • Belarus
  • (Belarus)
  • Belgium
  • (Belgium)
  • Belize
  • (Belize)
  • Benin
  • (Benin)
  • Bermuda
  • (Bermuda)
  • Bhutan
  • (Bhutan)
  • Bolivia
  • (Bolivia)
  • Bosnia and Herzegovina
  • (Bosnia and Herzegovina)
  • Botswana
  • (Botswana)
  • Bouvet Island
  • (Bouvet Island)
  • Brazil
  • (Brazil)
  • British Indian Ocean Territory
  • (British Indian Ocean Territory)
  • Brunei Darussalam
  • (Brunei Darussalam)
  • Bulgaria
  • (Bulgaria)
  • Burkina Faso
  • (Burkina Faso)
  • Burundi
  • (Burundi)
  • Cambodia
  • (Cambodia)
  • Cameroon
  • (Cameroon)
  • Canada
  • (Canada)
  • Cape Verde
  • (Cape Verde)
  • Cayman Islands
  • (Cayman Islands)
  • Central African Republic
  • (Central African Republic)
  • Chad
  • (Chad)
  • Chile
  • (Chile)
  • China
  • (China)
  • Christmas Island
  • (Christmas Island)
  • Cocos (Keeling Islands)
  • (Cocos (Keeling Islands))
  • Colombia
  • (Colombia)
  • Comoros
  • (Comoros)
  • Congo
  • (Congo)
  • Cook Islands
  • (Cook Islands)
  • Costa Rica
  • (Costa Rica)
  • Cote D'Ivoire (Ivory Coast)
  • (Cote D'Ivoire (Ivory Coast))
  • Croatia (Hrvatska)
  • (Croatia (Hrvatska))
  • Cuba
  • (Cuba)
  • Cyprus
  • (Cyprus)
  • Czech Republic
  • (Czech Republic)
  • Denmark
  • (Denmark)
  • Djibouti
  • (Djibouti)
  • Dominica
  • (Dominica)
  • Dominican Republic
  • (Dominican Republic)
  • East Timor
  • (East Timor)
  • Ecuador
  • (Ecuador)
  • Egypt
  • (Egypt)
  • El Salvador
  • (El Salvador)
  • Equatorial Guinea
  • (Equatorial Guinea)
  • Eritrea
  • (Eritrea)
  • Estonia
  • (Estonia)
  • Ethiopia
  • (Ethiopia)
  • Falkland Islands (Malvinas)
  • (Falkland Islands (Malvinas))
  • Faroe Islands
  • (Faroe Islands)
  • Fiji
  • (Fiji)
  • Finland
  • (Finland)
  • France
  • (France)
  • Gabon
  • (Gabon)
  • Gambia
  • (Gambia)
  • Georgia
  • (Georgia)
  • Germany
  • (Germany)
  • Ghana
  • (Ghana)
  • Gibraltar
  • (Gibraltar)
  • Greece
  • (Greece)
  • Greenland
  • (Greenland)
  • Grenada
  • (Grenada)
  • Guadeloupe
  • (Guadeloupe)
  • Guam
  • (Guam)
  • Guatemala
  • (Guatemala)
  • Guiana, French
  • (Guiana, French)
  • Guinea
  • (Guinea)
  • Guinea-Bissau
  • (Guinea-Bissau)
  • Guyana
  • (Guyana)
  • Haiti
  • (Haiti)
  • Heard and McDonald Islands
  • (Heard and McDonald Islands)
  • Honduras
  • (Honduras)
  • Hong Kong
  • (Hong Kong)
  • Hungary
  • (Hungary)
  • Iceland
  • (Iceland)
  • India
  • (India)
  • Indonesia
  • (Indonesia)
  • Iran
  • (Iran)
  • Iraq
  • (Iraq)
  • Ireland
  • (Ireland)
  • Israel
  • (Israel)
  • Italy
  • (Italy)
  • Jamaica
  • (Jamaica)
  • Japan
  • (Japan)
  • Jordan
  • (Jordan)
  • Kazakhstan
  • (Kazakhstan)
  • Kenya
  • (Kenya)
  • Kiribati
  • (Kiribati)
  • Korea, North (People's Republic)
  • (Korea, North (People's Republic))
  • Korea, South (Republic)
  • (Korea, South (Republic))
  • Kuwait
  • (Kuwait)
  • Kyrgyzstan (Kyrgyz Republic)
  • (Kyrgyzstan (Kyrgyz Republic))
  • Laos
  • (Laos)
  • Latvia
  • (Latvia)
  • Lebanon
  • (Lebanon)
  • Lesotho
  • (Lesotho)
  • Liberia
  • (Liberia)
  • Libya
  • (Libya)
  • Liechtenstein
  • (Liechtenstein)
  • Lithuania
  • (Lithuania)
  • Luxembourg
  • (Luxembourg)
  • Macau
  • (Macau)
  • Macedonia
  • (Macedonia)
  • Madagascar
  • (Madagascar)
  • Malawi
  • (Malawi)
  • Malaysia
  • (Malaysia)
  • Maldives
  • (Maldives)
  • Mali
  • (Mali)
  • Malta
  • (Malta)
  • Marshall Islands
  • (Marshall Islands)
  • Martinique
  • (Martinique)
  • Mauritania
  • (Mauritania)
  • Mauritius
  • (Mauritius)
  • Mayotte
  • (Mayotte)
  • Mexico
  • (Mexico)
  • Micronesia
  • (Micronesia)
  • Moldova
  • (Moldova)
  • Monaco
  • (Monaco)
  • Mongolia
  • (Mongolia)
  • Montserrat
  • (Montserrat)
  • Morocco
  • (Morocco)
  • Mozambique
  • (Mozambique)
  • Myanmar
  • (Myanmar)
  • Namibia
  • (Namibia)
  • Nauru
  • (Nauru)
  • Nepal
  • (Nepal)
  • Netherlands
  • Netherlands Antilles
  • (Netherlands Antilles)
  • (Netherlands)
  • Neutral Zone (Saudia Arabia/Iraq)
  • (Neutral Zone (Saudia Arabia/Iraq))
  • New Caledonia
  • (New Caledonia)
  • New Zealand
  • (New Zealand)
  • Nicaragua
  • (Nicaragua)
  • Niger
  • (Niger)
  • Nigeria
  • (Nigeria)
  • Niue
  • (Niue)
  • Norfolk Island
  • (Norfolk Island)
  • Northern Mariana Islands
  • (Northern Mariana Islands)
  • Norway
  • (Norway)
  • Oman
  • (Oman)
  • Pakistan
  • (Pakistan)
  • Palau
  • (Palau)
  • Palestine
  • (Palestine)
  • Panama
  • (Panama)
  • Papua New Guinea
  • (Papua New Guinea)
  • Paraguay
  • (Paraguay)
  • Peru
  • (Peru)
  • Philippines
  • (Philippines)
  • Pitcairn
  • (Pitcairn)
  • Poland
  • (Poland)
  • Polynesia, French
  • (Polynesia, French)
  • Portugal
  • (Portugal)
  • Puerto Rico
  • (Puerto Rico)
  • Qatar
  • (Qatar)
  • Reunion
  • (Reunion)
  • Romania
  • (Romania)
  • Russian Federation
  • (Russian Federation)
  • Rwanda
  • (Rwanda)
  • S. Georgia and S. Sandwich Isls.
  • (S. Georgia and S. Sandwich Isls.)
  • Saint Kitts and Nevis
  • (Saint Kitts and Nevis)
  • Saint Lucia
  • (Saint Lucia)
  • Saint Vincent and The Grenadines
  • (Saint Vincent and The Grenadines)
  • Samoa
  • (Samoa)
  • San Marino
  • (San Marino)
  • Sao Tome and Principe
  • (Sao Tome and Principe)
  • Saudi Arabia
  • (Saudi Arabia)
  • Senegal
  • (Senegal)
  • Seychelles
  • (Seychelles)
  • Sierra Leone
  • (Sierra Leone)
  • Singapore
  • (Singapore)
  • Slovakia (Slovak Republic)
  • (Slovakia (Slovak Republic))
  • Slovenia
  • (Slovenia)
  • Solomon Islands
  • (Solomon Islands)
  • Somalia
  • (Somalia)
  • South Africa
  • (South Africa)
  • Southern Territories, French
  • (Southern Territories, French)
  • Soviet Union (former)
  • (Soviet Union (former))
  • Spain
  • (Spain)
  • Sri Lanka
  • (Sri Lanka)
  • St. Helena
  • (St. Helena)
  • St. Pierre and Miquelon
  • (St. Pierre and Miquelon)
  • Sudan
  • (Sudan)
  • Suriname
  • (Suriname)
  • Svalbard and Jan Mayen Islands
  • (Svalbard and Jan Mayen Islands)
  • Swaziland
  • (Swaziland)
  • Sweden
  • (Sweden)
  • Switzerland
  • (Switzerland)
  • Syria
  • (Syria)
  • Taiwan
  • (Taiwan)
  • Tajikistan
  • (Tajikistan)
  • Tanzania
  • (Tanzania)
  • Thailand
  • (Thailand)
  • Togo
  • (Togo)
  • Tokelau
  • (Tokelau)
  • Tonga
  • (Tonga)
  • Trinidad and Tobago
  • (Trinidad and Tobago)
  • Tunisia
  • (Tunisia)
  • Turkey
  • (Turkey)
  • Turkmenistan
  • (Turkmenistan)
  • Turks and Caicos Islands
  • (Turks and Caicos Islands)
  • Tuvalu
  • (Tuvalu)
  • Uganda
  • (Uganda)
  • Ukraine
  • (Ukraine)
  • United Arab Emirates
  • (United Arab Emirates)
  • United Kingdom (Great Britain)
  • (United Kingdom (Great Britain))
  • United States
  • (United States)
  • Uruguay
  • (Uruguay)
  • US Minor Outlying Islands
  • (US Minor Outlying Islands)
  • Uzbekistan
  • (Uzbekistan)
  • Vanuatu
  • (Vanuatu)
  • Vatican City State (Holy See)
  • (Vatican City State (Holy See))
  • Venezuela
  • (Venezuela)
  • Viet Nam
  • (Viet Nam)
  • Virgin Islands (British)
  • (Virgin Islands (British))
  • Virgin Islands (US)
  • (Virgin Islands (US))
  • Wallis and Futuna Islands
  • (Wallis and Futuna Islands)
  • Western Sahara
  • (Western Sahara)
  • Yemen
  • (Yemen)
  • Yugoslavia
  • (Yugoslavia)
  • Zaire
  • (Zaire)
  • Zambia
  • (Zambia)
  • Zimbabwe
  • (Zimbabwe)

Ethnic origin: Ethnic origin of the patient

Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic)
  • unknown
  • isolated (sporadic)
  • familial
  • familial, autosomal dominant
  • familial, autosomal recessive
  • familial, X-linked dominant
  • familial, X-linked dominant, male sparing
  • familial, X-linked recessive
  • paternal, Y-linked
  • maternal, mitochondrial

Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
  • ? = unknown
  • no = non-consanguineous parents
  • yes = consanguineous parents

Age_exam: age at which the individual was examined; 12h = 12 hours, 13d = 13 days, 35y = 35 years, 4y8m = 4 years and 8 months, 18y? = around 18 years, >54y = older then 54y, ? = unknown, - = not applicable

Age_onset: age at onset; 12h = 12 hours, 13d = 13 days, 35y = 35 years, 4y8m = 4 years and 8 months, 18y? = around 18 years, >54y = older then 54y, ? = unknown, - = not applicable

MR: MR = mental retardation

# Reported: Number of times this case has been reported