Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17208 | 51847;51848;51849 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| N2AB | 15567 | 46924;46925;46926 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| N2A | 14640 | 44143;44144;44145 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| N2B | 8143 | 24652;24653;24654 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| Novex-1 | 8268 | 25027;25028;25029 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| Novex-2 | 8335 | 25228;25229;25230 | chr2:178609801;178609800;178609799 | chr2:179474528;179474527;179474526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.997 | N | 0.745 | 0.475 | 0.486920840936 | gnomAD-4.0.0 | 2.73798E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59932E-06 | 0 | 0 |
| T/R | None | None | 0.997 | D | 0.747 | 0.371 | 0.538097488659 | gnomAD-4.0.0 | 6.84495E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99829E-07 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1392 | likely_benign | 0.1423 | benign | -0.707 | Destabilizing | 0.977 | D | 0.431 | neutral | N | 0.484960951 | None | None | N |
| T/C | 0.5077 | ambiguous | 0.497 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| T/D | 0.6406 | likely_pathogenic | 0.6142 | pathogenic | 0.044 | Stabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/E | 0.3699 | ambiguous | 0.3343 | benign | 0.021 | Stabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/F | 0.4342 | ambiguous | 0.4089 | ambiguous | -0.896 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.5354 | ambiguous | 0.5258 | ambiguous | -0.931 | Destabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/H | 0.3239 | likely_benign | 0.3088 | benign | -1.204 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| T/I | 0.1845 | likely_benign | 0.1811 | benign | -0.214 | Destabilizing | 0.997 | D | 0.745 | deleterious | N | 0.484289388 | None | None | N |
| T/K | 0.2267 | likely_benign | 0.2054 | benign | -0.649 | Destabilizing | 0.993 | D | 0.7 | prob.neutral | N | 0.503285637 | None | None | N |
| T/L | 0.159 | likely_benign | 0.1592 | benign | -0.214 | Destabilizing | 0.983 | D | 0.61 | neutral | None | None | None | None | N |
| T/M | 0.1218 | likely_benign | 0.1157 | benign | -0.01 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/N | 0.232 | likely_benign | 0.239 | benign | -0.524 | Destabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| T/P | 0.2491 | likely_benign | 0.2921 | benign | -0.346 | Destabilizing | 0.117 | N | 0.367 | neutral | N | 0.485974909 | None | None | N |
| T/Q | 0.2415 | likely_benign | 0.2268 | benign | -0.682 | Destabilizing | 0.998 | D | 0.756 | deleterious | None | None | None | None | N |
| T/R | 0.2045 | likely_benign | 0.182 | benign | -0.409 | Destabilizing | 0.997 | D | 0.747 | deleterious | D | 0.526605214 | None | None | N |
| T/S | 0.1825 | likely_benign | 0.1877 | benign | -0.792 | Destabilizing | 0.977 | D | 0.405 | neutral | N | 0.483137299 | None | None | N |
| T/V | 0.1278 | likely_benign | 0.1246 | benign | -0.346 | Destabilizing | 0.991 | D | 0.487 | neutral | None | None | None | None | N |
| T/W | 0.757 | likely_pathogenic | 0.7232 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/Y | 0.4441 | ambiguous | 0.4111 | ambiguous | -0.613 | Destabilizing | 0.999 | D | 0.781 | 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.