Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2590 | 7993;7994;7995 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| N2AB | 2590 | 7993;7994;7995 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| N2A | 2590 | 7993;7994;7995 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| N2B | 2544 | 7855;7856;7857 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| Novex-1 | 2544 | 7855;7856;7857 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| Novex-2 | 2544 | 7855;7856;7857 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
| Novex-3 | 2590 | 7993;7994;7995 | chr2:178773196;178773195;178773194 | chr2:179637923;179637922;179637921 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs761445567  |
-0.11 | 0.998 | N | 0.703 | 0.506 | 0.534287799004 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 4.04E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| T/I | rs761445567 |
-0.11 | 0.998 | N | 0.703 | 0.506 | 0.534287799004 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs761445567 |
-0.11 | 0.998 | N | 0.703 | 0.506 | 0.534287799004 | gnomAD-4.0.0 | 6.1976E-06 | None | None | None | None | N | None | 1.33586E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78057E-06 | 0 | 1.60067E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1312 | likely_benign | 0.1398 | benign | -1.0 | Destabilizing | 0.996 | D | 0.519 | neutral | D | 0.551710385 | None | None | N |
| T/C | 0.4828 | ambiguous | 0.5203 | ambiguous | -0.735 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/D | 0.6437 | likely_pathogenic | 0.6432 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/E | 0.4079 | ambiguous | 0.4003 | ambiguous | -0.975 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/F | 0.3475 | ambiguous | 0.3732 | ambiguous | -0.534 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/G | 0.5029 | ambiguous | 0.5281 | ambiguous | -1.415 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/H | 0.2591 | likely_benign | 0.2721 | benign | -1.504 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/I | 0.2097 | likely_benign | 0.2169 | benign | 0.084 | Stabilizing | 0.998 | D | 0.703 | prob.neutral | N | 0.51130924 | None | None | N |
| T/K | 0.2393 | likely_benign | 0.2379 | benign | -0.656 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.516501488 | None | None | N |
| T/L | 0.1542 | likely_benign | 0.1658 | benign | 0.084 | Stabilizing | 0.994 | D | 0.591 | neutral | None | None | None | None | N |
| T/M | 0.1166 | likely_benign | 0.1244 | benign | -0.018 | Destabilizing | 0.985 | D | 0.512 | neutral | None | None | None | None | N |
| T/N | 0.2061 | likely_benign | 0.2122 | benign | -1.234 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| T/P | 0.7557 | likely_pathogenic | 0.693 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.650481464 | None | None | N |
| T/Q | 0.2692 | likely_benign | 0.274 | benign | -1.006 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| T/R | 0.193 | likely_benign | 0.1872 | benign | -0.833 | Destabilizing | 0.999 | D | 0.742 | deleterious | N | 0.511268854 | None | None | N |
| T/S | 0.171 | likely_benign | 0.1884 | benign | -1.463 | Destabilizing | 0.998 | D | 0.511 | neutral | N | 0.516256394 | None | None | N |
| T/V | 0.1849 | likely_benign | 0.2007 | benign | -0.245 | Destabilizing | 0.994 | D | 0.506 | neutral | None | None | None | None | N |
| T/W | 0.6196 | likely_pathogenic | 0.6391 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/Y | 0.3491 | ambiguous | 0.3591 | ambiguous | -0.324 | Destabilizing | 1.0 | D | 0.787 | 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.