Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1533 | 4822;4823;4824 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| N2AB | 1533 | 4822;4823;4824 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| N2A | 1533 | 4822;4823;4824 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| N2B | 1487 | 4684;4685;4686 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| Novex-1 | 1487 | 4684;4685;4686 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| Novex-2 | 1487 | 4684;4685;4686 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
| Novex-3 | 1533 | 4822;4823;4824 | chr2:178777468;178777467;178777466 | chr2:179642195;179642194;179642193 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | N | 0.597 | 0.376 | 0.323886383625 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85709E-06 | 0 | 0 |
| Q/R | None | None | 0.98 | N | 0.597 | 0.511 | 0.224531998449 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.457 | ambiguous | 0.4781 | ambiguous | -0.808 | Destabilizing | 0.985 | D | 0.578 | neutral | None | None | None | None | I |
| Q/C | 0.8578 | likely_pathogenic | 0.8888 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| Q/D | 0.848 | likely_pathogenic | 0.8851 | pathogenic | -0.897 | Destabilizing | 0.971 | D | 0.535 | neutral | None | None | None | None | I |
| Q/E | 0.131 | likely_benign | 0.1415 | benign | -0.782 | Destabilizing | 0.4 | N | 0.196 | neutral | N | 0.471448869 | None | None | I |
| Q/F | 0.9051 | likely_pathogenic | 0.9271 | pathogenic | -0.487 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | I |
| Q/G | 0.6338 | likely_pathogenic | 0.6802 | pathogenic | -1.176 | Destabilizing | 0.993 | D | 0.636 | neutral | None | None | None | None | I |
| Q/H | 0.4831 | ambiguous | 0.5535 | ambiguous | -1.017 | Destabilizing | 0.999 | D | 0.597 | neutral | N | 0.508314478 | None | None | I |
| Q/I | 0.6421 | likely_pathogenic | 0.6827 | pathogenic | 0.14 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
| Q/K | 0.1598 | likely_benign | 0.1917 | benign | -0.429 | Destabilizing | 0.953 | D | 0.551 | neutral | N | 0.474797272 | None | None | I |
| Q/L | 0.3323 | likely_benign | 0.3781 | ambiguous | 0.14 | Stabilizing | 0.99 | D | 0.621 | neutral | N | 0.507990899 | None | None | I |
| Q/M | 0.5604 | ambiguous | 0.5772 | pathogenic | 0.604 | Stabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | I |
| Q/N | 0.64 | likely_pathogenic | 0.6801 | pathogenic | -1.019 | Destabilizing | 0.993 | D | 0.573 | neutral | None | None | None | None | I |
| Q/P | 0.9802 | likely_pathogenic | 0.9877 | pathogenic | -0.146 | Destabilizing | 0.999 | D | 0.623 | neutral | D | 0.611124253 | None | None | I |
| Q/R | 0.1767 | likely_benign | 0.2217 | benign | -0.366 | Destabilizing | 0.98 | D | 0.597 | neutral | N | 0.447634661 | None | None | I |
| Q/S | 0.4884 | ambiguous | 0.4996 | ambiguous | -1.147 | Destabilizing | 0.985 | D | 0.564 | neutral | None | None | None | None | I |
| Q/T | 0.3776 | ambiguous | 0.3876 | ambiguous | -0.835 | Destabilizing | 0.993 | D | 0.605 | neutral | None | None | None | None | I |
| Q/V | 0.4337 | ambiguous | 0.4676 | ambiguous | -0.146 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | I |
| Q/W | 0.8429 | likely_pathogenic | 0.8956 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| Q/Y | 0.789 | likely_pathogenic | 0.8389 | pathogenic | -0.104 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | I |
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.