Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32241 | 96946;96947;96948 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| N2AB | 30600 | 92023;92024;92025 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| N2A | 29673 | 89242;89243;89244 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| N2B | 23176 | 69751;69752;69753 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| Novex-1 | 23301 | 70126;70127;70128 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| Novex-2 | 23368 | 70327;70328;70329 | chr2:178543252;178543251;178543250 | chr2:179407979;179407978;179407977 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs760365458  |
-2.376 | 1.0 | N | 0.833 | 0.434 | 0.66810035825 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/D | rs760365458 |
-2.376 | 1.0 | N | 0.833 | 0.434 | 0.66810035825 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/D | rs760365458 |
-2.376 | 1.0 | N | 0.833 | 0.434 | 0.66810035825 | gnomAD-4.0.0 | 3.84391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17913E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.524 | ambiguous | 0.5013 | ambiguous | -0.455 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/D | 0.9434 | likely_pathogenic | 0.9316 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.496727968 | None | None | N |
| A/E | 0.8531 | likely_pathogenic | 0.8293 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/F | 0.4469 | ambiguous | 0.4108 | ambiguous | -0.336 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/G | 0.2433 | likely_benign | 0.2268 | benign | -1.281 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.467267408 | None | None | N |
| A/H | 0.8534 | likely_pathogenic | 0.8436 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/I | 0.3664 | ambiguous | 0.3082 | benign | 0.715 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/K | 0.8969 | likely_pathogenic | 0.8868 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/L | 0.2896 | likely_benign | 0.2604 | benign | 0.715 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/M | 0.307 | likely_benign | 0.2583 | benign | 0.312 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/N | 0.8244 | likely_pathogenic | 0.765 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/P | 0.9841 | likely_pathogenic | 0.9821 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.835 | deleterious | N | 0.496727968 | None | None | N |
| A/Q | 0.7619 | likely_pathogenic | 0.7459 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/R | 0.8226 | likely_pathogenic | 0.8248 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/S | 0.2262 | likely_benign | 0.1878 | benign | -1.453 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.49831696 | None | None | N |
| A/T | 0.2268 | likely_benign | 0.1546 | benign | -1.036 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.46599996 | None | None | N |
| A/V | 0.1861 | likely_benign | 0.1559 | benign | 0.263 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.486982459 | None | None | N |
| A/W | 0.8871 | likely_pathogenic | 0.8836 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/Y | 0.6279 | likely_pathogenic | 0.6177 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.826 | 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.