Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18739 | 56440;56441;56442 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| N2AB | 17098 | 51517;51518;51519 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| N2A | 16171 | 48736;48737;48738 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| N2B | 9674 | 29245;29246;29247 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| Novex-1 | 9799 | 29620;29621;29622 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| Novex-2 | 9866 | 29821;29822;29823 | chr2:178599686;178599685;178599684 | chr2:179464413;179464412;179464411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs773116579  |
-0.417 | 0.996 | N | 0.507 | 0.262 | 0.206339911435 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/S | None | None | 0.905 | N | 0.383 | 0.269 | 0.198526703765 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88281E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3565 | ambiguous | 0.4961 | ambiguous | -0.999 | Destabilizing | 0.994 | D | 0.566 | neutral | None | None | None | None | N |
| N/C | 0.351 | ambiguous | 0.4658 | ambiguous | -0.12 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/D | 0.1755 | likely_benign | 0.2377 | benign | -0.666 | Destabilizing | 0.996 | D | 0.442 | neutral | D | 0.530923316 | None | None | N |
| N/E | 0.3778 | ambiguous | 0.4782 | ambiguous | -0.495 | Destabilizing | 0.997 | D | 0.505 | neutral | None | None | None | None | N |
| N/F | 0.6885 | likely_pathogenic | 0.7855 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| N/G | 0.3703 | ambiguous | 0.4762 | ambiguous | -1.397 | Destabilizing | 0.997 | D | 0.442 | neutral | None | None | None | None | N |
| N/H | 0.1299 | likely_benign | 0.1538 | benign | -0.964 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.51285763 | None | None | N |
| N/I | 0.3634 | ambiguous | 0.502 | ambiguous | 0.044 | Stabilizing | 0.999 | D | 0.831 | deleterious | N | 0.496600099 | None | None | N |
| N/K | 0.3501 | ambiguous | 0.4536 | ambiguous | -0.105 | Destabilizing | 0.996 | D | 0.507 | neutral | N | 0.480454423 | None | None | N |
| N/L | 0.3522 | ambiguous | 0.4687 | ambiguous | 0.044 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/M | 0.4399 | ambiguous | 0.5532 | ambiguous | 0.378 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/P | 0.8602 | likely_pathogenic | 0.9114 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/Q | 0.3197 | likely_benign | 0.4071 | ambiguous | -0.714 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| N/R | 0.3698 | ambiguous | 0.4541 | ambiguous | -0.259 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| N/S | 0.0884 | likely_benign | 0.1109 | benign | -1.0 | Destabilizing | 0.905 | D | 0.383 | neutral | N | 0.454558688 | None | None | N |
| N/T | 0.1567 | likely_benign | 0.2276 | benign | -0.611 | Destabilizing | 0.996 | D | 0.477 | neutral | N | 0.488191259 | None | None | N |
| N/V | 0.3675 | ambiguous | 0.504 | ambiguous | -0.273 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/W | 0.8147 | likely_pathogenic | 0.8668 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/Y | 0.2433 | likely_benign | 0.3268 | benign | -0.109 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.536811925 | 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.