Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31812 | 95659;95660;95661 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| N2AB | 30171 | 90736;90737;90738 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| N2A | 29244 | 87955;87956;87957 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| N2B | 22747 | 68464;68465;68466 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| Novex-1 | 22872 | 68839;68840;68841 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| Novex-2 | 22939 | 69040;69041;69042 | chr2:178545676;178545675;178545674 | chr2:179410403;179410402;179410401 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs754416007  |
-1.28 | 1.0 | N | 0.665 | 0.328 | 0.310458034454 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/S | rs754416007 |
-1.28 | 1.0 | N | 0.665 | 0.328 | 0.310458034454 | gnomAD-4.0.0 | 1.64306E-05 | None | None | None | None | N | None | 5.98444E-05 | 4.47868E-05 | None | 0 | 0 | None | 0 | 0 | 1.61992E-05 | 1.16001E-05 | 1.65744E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2232 | likely_benign | 0.2237 | benign | -0.731 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.480838986 | None | None | N |
| G/C | 0.3805 | ambiguous | 0.3695 | ambiguous | -1.057 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.511820483 | None | None | N |
| G/D | 0.4315 | ambiguous | 0.4327 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.478966108 | None | None | N |
| G/E | 0.4625 | ambiguous | 0.4409 | ambiguous | -1.265 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/F | 0.8271 | likely_pathogenic | 0.8075 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/H | 0.669 | likely_pathogenic | 0.6387 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/I | 0.725 | likely_pathogenic | 0.6925 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.6844 | likely_pathogenic | 0.6404 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/L | 0.6857 | likely_pathogenic | 0.6634 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/M | 0.7364 | likely_pathogenic | 0.7156 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/N | 0.5157 | ambiguous | 0.5142 | ambiguous | -0.97 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/P | 0.9757 | likely_pathogenic | 0.9734 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/Q | 0.5418 | ambiguous | 0.4944 | ambiguous | -1.09 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/R | 0.5767 | likely_pathogenic | 0.5255 | ambiguous | -1.026 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.47098671 | None | None | N |
| G/S | 0.1473 | likely_benign | 0.1527 | benign | -1.269 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.477440256 | None | None | N |
| G/T | 0.3108 | likely_benign | 0.328 | benign | -1.197 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.5655 | likely_pathogenic | 0.535 | ambiguous | -0.348 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.479219598 | None | None | N |
| G/W | 0.7891 | likely_pathogenic | 0.7613 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Y | 0.7293 | likely_pathogenic | 0.7107 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.