Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18451 | 55576;55577;55578 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| N2AB | 16810 | 50653;50654;50655 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| N2A | 15883 | 47872;47873;47874 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| N2B | 9386 | 28381;28382;28383 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| Novex-1 | 9511 | 28756;28757;28758 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| Novex-2 | 9578 | 28957;28958;28959 | chr2:178601739;178601738;178601737 | chr2:179466466;179466465;179466464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | None | None | 1.0 | N | 0.614 | 0.416 | 0.348324211639 | gnomAD-4.0.0 | 6.86275E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00531E-07 | 0 | 0 |
| R/Q | rs755767286  |
0.348 | 1.0 | N | 0.733 | 0.333 | 0.240491677333 | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.69584E-04 | None | 0 | 1.8E-05 | 0 |
| R/Q | rs755767286 |
0.348 | 1.0 | N | 0.733 | 0.333 | 0.240491677333 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs755767286 |
0.348 | 1.0 | N | 0.733 | 0.333 | 0.240491677333 | gnomAD-4.0.0 | 2.05083E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56769E-05 | 0 | 1.52746E-05 | 1.33749E-04 | 3.21213E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9278 | likely_pathogenic | 0.9115 | pathogenic | -0.591 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| R/C | 0.7661 | likely_pathogenic | 0.7151 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/D | 0.9741 | likely_pathogenic | 0.9651 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/E | 0.8855 | likely_pathogenic | 0.8572 | pathogenic | -0.037 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/F | 0.9605 | likely_pathogenic | 0.9429 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/G | 0.8893 | likely_pathogenic | 0.8749 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.614 | neutral | N | 0.488319453 | None | None | N |
| R/H | 0.4153 | ambiguous | 0.409 | ambiguous | -1.161 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/I | 0.8313 | likely_pathogenic | 0.765 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/K | 0.303 | likely_benign | 0.2984 | benign | -0.661 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | N |
| R/L | 0.7689 | likely_pathogenic | 0.6932 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.614 | neutral | N | 0.485605874 | None | None | N |
| R/M | 0.8836 | likely_pathogenic | 0.8356 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/N | 0.944 | likely_pathogenic | 0.9373 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/P | 0.8842 | likely_pathogenic | 0.8607 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.451297568 | None | None | N |
| R/Q | 0.4295 | ambiguous | 0.4004 | ambiguous | -0.384 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.487558984 | None | None | N |
| R/S | 0.964 | likely_pathogenic | 0.955 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/T | 0.9173 | likely_pathogenic | 0.8881 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/V | 0.8948 | likely_pathogenic | 0.8479 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/W | 0.7225 | likely_pathogenic | 0.6633 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/Y | 0.8836 | likely_pathogenic | 0.8461 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | 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.