Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2488 | 7687;7688;7689 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| N2AB | 2488 | 7687;7688;7689 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| N2A | 2488 | 7687;7688;7689 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| N2B | 2442 | 7549;7550;7551 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| Novex-1 | 2442 | 7549;7550;7551 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| Novex-2 | 2442 | 7549;7550;7551 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
| Novex-3 | 2488 | 7687;7688;7689 | chr2:178773594;178773593;178773592 | chr2:179638321;179638320;179638319 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs928988828  |
None | 1.0 | D | 0.388 | 0.279 | 0.276482976112 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs928988828 |
None | 1.0 | D | 0.388 | 0.279 | 0.276482976112 | gnomAD-4.0.0 | 2.02985E-06 | None | None | None | None | N | None | 3.49504E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 0.994 | D | 0.527 | 0.416 | 0.40146981186 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2778 | likely_benign | 0.2903 | benign | -0.287 | Destabilizing | 0.835 | D | 0.402 | neutral | N | 0.452831329 | None | None | N |
| D/C | 0.6947 | likely_pathogenic | 0.7073 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| D/E | 0.36 | ambiguous | 0.3713 | ambiguous | -0.361 | Destabilizing | 0.91 | D | 0.396 | neutral | N | 0.454989068 | None | None | N |
| D/F | 0.7868 | likely_pathogenic | 0.805 | pathogenic | -0.289 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| D/G | 0.159 | likely_benign | 0.1605 | benign | -0.491 | Destabilizing | 0.031 | N | 0.284 | neutral | N | 0.426921516 | None | None | N |
| D/H | 0.487 | ambiguous | 0.5024 | ambiguous | -0.209 | Destabilizing | 1.0 | D | 0.388 | neutral | D | 0.531254221 | None | None | N |
| D/I | 0.6746 | likely_pathogenic | 0.7037 | pathogenic | 0.202 | Stabilizing | 0.996 | D | 0.563 | neutral | None | None | None | None | N |
| D/K | 0.6214 | likely_pathogenic | 0.6502 | pathogenic | 0.075 | Stabilizing | 0.97 | D | 0.367 | neutral | None | None | None | None | N |
| D/L | 0.5976 | likely_pathogenic | 0.6243 | pathogenic | 0.202 | Stabilizing | 0.996 | D | 0.519 | neutral | None | None | None | None | N |
| D/M | 0.7901 | likely_pathogenic | 0.8028 | pathogenic | 0.335 | Stabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| D/N | 0.1018 | likely_benign | 0.1035 | benign | -0.108 | Destabilizing | 0.961 | D | 0.398 | neutral | N | 0.450581876 | None | None | N |
| D/P | 0.9347 | likely_pathogenic | 0.9372 | pathogenic | 0.061 | Stabilizing | 0.996 | D | 0.375 | neutral | None | None | None | None | N |
| D/Q | 0.6293 | likely_pathogenic | 0.6472 | pathogenic | -0.076 | Destabilizing | 0.996 | D | 0.383 | neutral | None | None | None | None | N |
| D/R | 0.678 | likely_pathogenic | 0.706 | pathogenic | 0.25 | Stabilizing | 0.996 | D | 0.505 | neutral | None | None | None | None | N |
| D/S | 0.1278 | likely_benign | 0.1286 | benign | -0.244 | Destabilizing | 0.348 | N | 0.192 | neutral | None | None | None | None | N |
| D/T | 0.2677 | likely_benign | 0.2693 | benign | -0.096 | Destabilizing | 0.942 | D | 0.335 | neutral | None | None | None | None | N |
| D/V | 0.4246 | ambiguous | 0.4549 | ambiguous | 0.061 | Stabilizing | 0.994 | D | 0.527 | neutral | D | 0.532763791 | None | None | N |
| D/W | 0.9621 | likely_pathogenic | 0.9656 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| D/Y | 0.4735 | ambiguous | 0.5161 | ambiguous | -0.078 | Destabilizing | 0.998 | D | 0.564 | neutral | D | 0.532763791 | 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.