Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9786 | 29581;29582;29583 | chr2:178706518;178706517;178706516 | chr2:179571245;179571244;179571243 |
| N2AB | 9469 | 28630;28631;28632 | chr2:178706518;178706517;178706516 | chr2:179571245;179571244;179571243 |
| N2A | 8542 | 25849;25850;25851 | chr2:178706518;178706517;178706516 | chr2:179571245;179571244;179571243 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs2075898399  |
None | 0.999 | None | 0.821 | 0.407 | 0.42069145522 | 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 |
| L/F | rs2075898399 |
None | 0.999 | None | 0.821 | 0.407 | 0.42069145522 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.993 | likely_pathogenic | 0.9793 | pathogenic | -3.039 | Highly Destabilizing | 0.997 | D | 0.743 | deleterious | None | None | None | None | N |
| L/C | 0.9852 | likely_pathogenic | 0.9529 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.547 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/E | 0.9991 | likely_pathogenic | 0.9982 | pathogenic | -3.258 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| L/F | 0.9508 | likely_pathogenic | 0.7902 | pathogenic | -1.866 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| L/G | 0.9979 | likely_pathogenic | 0.9953 | pathogenic | -3.63 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/H | 0.9985 | likely_pathogenic | 0.995 | pathogenic | -3.119 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/I | 0.5534 | ambiguous | 0.2778 | benign | -1.279 | Destabilizing | 0.992 | D | 0.62 | neutral | None | None | None | None | N |
| L/K | 0.998 | likely_pathogenic | 0.9967 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| L/M | 0.7513 | likely_pathogenic | 0.5122 | ambiguous | -1.515 | Destabilizing | 0.985 | D | 0.603 | neutral | None | None | None | None | N |
| L/N | 0.9992 | likely_pathogenic | 0.9982 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/P | 0.9997 | likely_pathogenic | 0.9987 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| L/Q | 0.9976 | likely_pathogenic | 0.9937 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| L/R | 0.9959 | likely_pathogenic | 0.9923 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/S | 0.9991 | likely_pathogenic | 0.9965 | pathogenic | -3.569 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| L/T | 0.9952 | likely_pathogenic | 0.9848 | pathogenic | -3.12 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/V | 0.7313 | likely_pathogenic | 0.41 | ambiguous | -1.854 | Destabilizing | 0.992 | D | 0.64 | neutral | None | None | None | None | N |
| L/W | 0.9966 | likely_pathogenic | 0.9833 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/Y | 0.9965 | likely_pathogenic | 0.987 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.857 | 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.