Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19604 | 59035;59036;59037 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| N2AB | 17963 | 54112;54113;54114 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| N2A | 17036 | 51331;51332;51333 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| N2B | 10539 | 31840;31841;31842 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| Novex-1 | 10664 | 32215;32216;32217 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| Novex-2 | 10731 | 32416;32417;32418 | chr2:178593398;178593397;178593396 | chr2:179458125;179458124;179458123 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs754807338  |
0.294 | None | N | 0.076 | 0.096 | 0.144782658237 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| H/R | rs754807338 |
0.294 | None | N | 0.076 | 0.096 | 0.144782658237 | gnomAD-4.0.0 | 1.43301E-05 | None | None | None | None | N | None | 0 | 0 | None | 4.77008E-05 | 0 | None | 0 | 0 | 1.42985E-05 | 4.2991E-05 | 0 |
| H/Y | rs780811337 |
1.113 | None | N | 0.063 | 0.129 | 0.104622674875 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| H/Y | rs780811337 |
1.113 | None | N | 0.063 | 0.129 | 0.104622674875 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85971E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1458 | likely_benign | 0.1542 | benign | 0.276 | Stabilizing | None | N | 0.155 | neutral | None | None | None | None | N |
| H/C | 0.1263 | likely_benign | 0.1269 | benign | 0.659 | Stabilizing | 0.497 | N | 0.312 | neutral | None | None | None | None | N |
| H/D | 0.1399 | likely_benign | 0.1454 | benign | 0.129 | Stabilizing | 0.007 | N | 0.304 | neutral | N | 0.399075473 | None | None | N |
| H/E | 0.1839 | likely_benign | 0.197 | benign | 0.136 | Stabilizing | 0.004 | N | 0.105 | neutral | None | None | None | None | N |
| H/F | 0.1846 | likely_benign | 0.1782 | benign | 0.715 | Stabilizing | 0.022 | N | 0.361 | neutral | None | None | None | None | N |
| H/G | 0.1888 | likely_benign | 0.1954 | benign | 0.023 | Stabilizing | 0.004 | N | 0.239 | neutral | None | None | None | None | N |
| H/I | 0.2114 | likely_benign | 0.2243 | benign | 0.904 | Stabilizing | 0.044 | N | 0.428 | neutral | None | None | None | None | N |
| H/K | 0.137 | likely_benign | 0.15 | benign | 0.266 | Stabilizing | None | N | 0.146 | neutral | None | None | None | None | N |
| H/L | 0.0979 | likely_benign | 0.0973 | benign | 0.904 | Stabilizing | 0.003 | N | 0.314 | neutral | N | 0.386396964 | None | None | N |
| H/M | 0.2788 | likely_benign | 0.2927 | benign | 0.745 | Stabilizing | 0.497 | N | 0.307 | neutral | None | None | None | None | N |
| H/N | 0.0678 | likely_benign | 0.0667 | benign | 0.345 | Stabilizing | None | N | 0.087 | neutral | N | 0.388455834 | None | None | N |
| H/P | 0.214 | likely_benign | 0.2244 | benign | 0.72 | Stabilizing | 0.065 | N | 0.395 | neutral | N | 0.418565311 | None | None | N |
| H/Q | 0.1178 | likely_benign | 0.1258 | benign | 0.391 | Stabilizing | 0.014 | N | 0.218 | neutral | N | 0.420509538 | None | None | N |
| H/R | 0.0753 | likely_benign | 0.0814 | benign | -0.17 | Destabilizing | None | N | 0.076 | neutral | N | 0.368195205 | None | None | N |
| H/S | 0.1262 | likely_benign | 0.1288 | benign | 0.357 | Stabilizing | 0.004 | N | 0.181 | neutral | None | None | None | None | N |
| H/T | 0.1771 | likely_benign | 0.1842 | benign | 0.46 | Stabilizing | 0.004 | N | 0.297 | neutral | None | None | None | None | N |
| H/V | 0.168 | likely_benign | 0.176 | benign | 0.72 | Stabilizing | 0.018 | N | 0.318 | neutral | None | None | None | None | N |
| H/W | 0.2715 | likely_benign | 0.2863 | benign | 0.668 | Stabilizing | 0.245 | N | 0.295 | neutral | None | None | None | None | N |
| H/Y | 0.0772 | likely_benign | 0.073 | benign | 1.015 | Stabilizing | None | N | 0.063 | neutral | N | 0.346590569 | 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.