Yes, i find the concept that a silent mutation could be responsible for a human disease important, and my pushing on you was to figure out if this was real or the ramblings of a chatboard know-it-all. I had no intention of wasting my time based on the first pieces of information that you referenced. Here's the data from a recent review (thanks Genisi for a solid reference). Some of the data is tentative and the correlation with changes in folding rates are negligible.
Table S-2. Changes in relative synonymous codon usage (RSCU) values due to synonymous mutations associated with human diseases.
Synonymous mutations that cause or are associated with human diseases are listed along with the change in codon as a result of the synonymous change. The change in the RSCU values as a consequence of that synonymous mutation was calculated and is depicted as ?RSCU , the ?RSCU values show both positive (in 21 cases) and negative values (in 25 cases). This suggests that synonymous mutations might either increase or decrease local translation rates.
Disease Gene Loation Codon Change RSCU change Amino Acid
Macular Degneeration CFHR5 mRNA #635, exon 4 GAC to GAT -0.14 D
X-Linked Infantile Spinal Muscular Atrophy UBE1 Exon 15 CpG island AAC to AAT -0.12 N
Myasthenic syndrone CHRNE Exon 9 GGC to GGT -0.69 G
Asthma SLC6A7 gene mRNA position 1565, exon 10 GAT to GAC 0.14 D
Pulmonary Sarcoidosis CARD15 mrna position 1866, exon 4 CGT to CGG 0.73 R
Tuberculosis TIRAP mRNA position 994, exon 6, 1010, exon 5b GCC to GCT -0.54 A
Cystic Fibrosis CFTR mRNA position 1653, exon 12 ATT to ATC 0.33 I
Type III hyperlipidemia LPL mRNA posiiton 775, exon 3, GTG to GTA -1.38V
mRNA position 805, exon 4; GAG to GAA -0.31 E
mRNA position 1057, exon 6 CAT to CAC 0.32 H
mRNA position 1534, exon 8 ACC to ACA -0.29 T
Hemophilia F9 gene exon 5 GTG to GTA -1.38 V
Crouzon Syndrome FGFR2 exon 3c GCG to GCA 0.48 A
Osteoporosis CD44 gene mRNA position 1556, exon 10 ( or mRNA position 1427, exon 9 (different variants) GAG GAA -0.31 E
Treacher Collins Syndrome TCOF1 Exon 23 TCA to TCC 0.41 S
Smoking-related Cancer NBS1 mRNA position 1307, exon 10 GAT to GAC 0.14 D
mRNA position 2126, exon 14 CCA to CCG -0.65 P
Colorectal Cancer ERCC1 mRNA position 1307, exon 10 AAT to AAC 0.12 N
Chronic Myeloid Leukemia BCR-ABL fusion gene or WT1 mRNA position 723, exon 5 (553-823) or mRNA position 1216, exon 5 (different variants) ACG ACA 0.68 T
mRNA position 1500, exon 10 or mRNAposition 1993, exon 10 GAA to GAG 0.31 E
Non-Small-Cell Lung Carcinoma EGFR mRNA position 3228, exon 27 GAC to GAT -0.14 D
Drug Resistance MDR1 (ABCB1) mRNA position 3853, exon 27 ATC to ATT -0.33 I
Cancer TP53 mRNA position 923, exon 27 ACG to ACA 0.68 T
Cervical and Vulvar Cancer IL2 mRNA position 169, exon 1 CTG to CTT -1.58 L
Coeliac Disease CD44, CD59 and APIP genes mRNA position 689, exon 3 CAC to CAT -0.32 H
mRNA position 6, signal peptide GGG to GGA 0 G
mRNA position 483, exon 5 ACA to ACC 0.29 T
Alzheimer CHRNA4 gene mRNA position 1807, exon 5 AGC to AGT -0.55 S
COX6B1 gene mRNA position 234, exon 2 ACC to ACT -0.44 T
COX6C gene mRNA position 228, exon 3 TAC to TAT -0.23 Y
COX8A gene mRNA position 185, exon 1 ATC to ATA -0.9 I
Mental Retardation HSD17B10 Exon 5, mtDNA CGC to CGA -0.44 R
Adult and Child Attention- Deficit/Hyperacti vity Disorder (ADHD) NTF3 mRNA position 502, exon 2b or position 368, exon 2 CCG to CCA 0.65 P
Depression TPH1 Not known CCC to CCT -0.15 P
Huntington's Chorea ADORA2A mRNA position 1542, exon 3 TAT to TAC
0.23 Y
Schizophrenia PADIs and PADI2 mRNA position 811, exon 7 GGT GGG 0.35 G
SYNGR1 mRNA position 725, exon 6 TTC to TTT-0.14 F
DRD2 mRNA position 1192, exon 7 CCC to CCT -0.15 P
or mRNA position 1105, exon 7 CAT to CAC 0.32 H
GRIN1 Not known AAT to AAC 0.12 N
Phenylketonuria (PKU) PAH Exon 9 CTC to CTT -0.38 L
ACA to ACG -0.68 T
Pain perception temporomandibular joint disorder COMT mRNA position 651, 609, 626 and 382, exon 6 GCG to GCA 0.48 A
Sturge-Weber Syndrome RASA1 Not known AAG to AAA -0.27 K
Age related TERT mRNA position 3097, exon 14 CAC to CAT -0.32 H
mRNA position 1870, exon 4 GCA to GCG -0.48 A
IGFIR mRNA position 776, exon 4 ACG to ACA 0.68 T
Chronic Hepatitis C IRF7 mRNA position 776, exon 4 CGG to CGA -0.55 R
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