USH 1C
Frequency 2%
8.000 patients
Gene name: USH1C (also known as: AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C and harmonin)
Gene size: 3241 (bp)
Protein name: Harmonin
Protein size: 899 (aa)
There are 11 different transcripts known for this gene
USH 1D
Frequency 7,5%
30.000 patients
Gene name: CDH23 (also known as: CDHR23, DFNB12, USH1D)
Gene size: 11.138 (bp)
Protein name: Cadherin-23
Protein size: 3354 (aa)
There are 19 different transcripts known for this gene
USH 1F
Frequency 4,5%
18.000 patients
Gene name: PCDH15 (also known as: CDHR15, DFNB23, USH1F)
Gene size: 9237 (bp)
Protein name: Protocadherin-15
Protein size: 1677 (aa)
There are 36 different transcripts known for this gene
USH 1G
Frequency 2%
8.000 patients
Gene name: USH1G (also known as: SANS)
Gene size: 3558 (bp)
Protein name: Usher syndrome type-1G protein
Protein size: 461 (aa)
There are 2 different transcripts known for this gene
USH 1J
Frequency <1%. 400 patients Gene name: CIB2 (a;so known as: DFNB48, KIP2, USH1J)
Gene size: 1511 (bp)
Protein name: CIB2
Protein size: 144 (aa)
There are 10 different transcripts known for this gene
USH 2A
Frequency 52%
208.000 patients
Gene name: USH2A (also known as: A930011D15Rik, A930037M10Rik, LOC269160, LOC381317, MUSH2A, Ush2a, Ushrn)
Gene size: 15.695 (bp)
Protein name: Usherin
Protein size: 5193 (aa)
There are 5 different transcripts known for this gene
USH 2C
Frequency 10%
40.000 patients
Gene name: ADGRV1 (oalso known as: DKFZp761P0710, FEB4, GPR98, KIAA0686, MASS1, USH2C, VLGR1)
Gene size: 19.557 (bp)
Protein name: ADGRV1
Protein size: 6306 (aa)
There are 37 different transcripts known for this gene
USH 2D
Frequency 3%
12.000 patients
Gene name: WHRN (also known as: CIP98, DFNB31, PDZD7B, USH2D)
Gene size: 4070 (bp)
Protein name: Whirlin
Protein size: 907 (aa)
There are 9 different transcripts known for this gene
USH 3
Frequency 3%
12.000 patients
Gene name: CLRN1 (also known as: RP61, USH3, USH3A)
Gene size: 2359 (bp)
Protein name: Clarin-1
Protein size: 232 (aa)
There are 8 different transcripts known for this gene
USH 4
Frequency: extremely rare / unknown
Gene name: ARSG (also known as KIAA1001)
Gene size: 4642 (bp)
Protein name: Arylsulfatase G
Protein size: 525 (aa)
There are 8 different transcripts known for this gene
FROM GENE TO PROTEIN
A gene size is indicated by base pair (bp) of nucleotides. A base pair (1 bp) provides 2 bits of information.
SEARCH DATABASES
There are 3 databases where geneticists, scientists and specialists can consult all information about mutations, transcripts and gene locations. These are publicly accessible. These databases always search for the gene name.
OMIM = a database describing all human disease-causing mutations
ENSEMBL = a database with all gene and protein information
LOVD = Global Leiden Open Variation Database.
