Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15555 | 46888;46889;46890 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| N2AB | 13914 | 41965;41966;41967 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| N2A | 12987 | 39184;39185;39186 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| N2B | 6490 | 19693;19694;19695 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| Novex-1 | 6615 | 20068;20069;20070 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| Novex-2 | 6682 | 20269;20270;20271 | chr2:178619654;178619653;178619652 | chr2:179484381;179484380;179484379 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 1.0 | D | 0.675 | 0.556 | 0.578293158758 | gnomAD-4.0.0 | 6.84902E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00176E-07 | 0 | 0 |
| D/N | rs754162662  |
None | 1.0 | N | 0.705 | 0.378 | 0.382925413656 | gnomAD-4.0.0 | 6.84902E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00176E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4785 | ambiguous | 0.5185 | ambiguous | -0.036 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.535341918 | None | None | N |
| D/C | 0.8787 | likely_pathogenic | 0.8962 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| D/E | 0.2349 | likely_benign | 0.2563 | benign | -0.3 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.502320885 | None | None | N |
| D/F | 0.8451 | likely_pathogenic | 0.8792 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| D/G | 0.165 | likely_benign | 0.1684 | benign | -0.188 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.517415763 | None | None | N |
| D/H | 0.5763 | likely_pathogenic | 0.6183 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.675 | neutral | D | 0.546074664 | None | None | N |
| D/I | 0.807 | likely_pathogenic | 0.8276 | pathogenic | 0.302 | Stabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| D/K | 0.6959 | likely_pathogenic | 0.6945 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/L | 0.7621 | likely_pathogenic | 0.7764 | pathogenic | 0.302 | Stabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| D/M | 0.8669 | likely_pathogenic | 0.8827 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| D/N | 0.1555 | likely_benign | 0.1769 | benign | 0.095 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.4625829 | None | None | N |
| D/P | 0.9438 | likely_pathogenic | 0.9424 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/Q | 0.578 | likely_pathogenic | 0.5761 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/R | 0.7341 | likely_pathogenic | 0.7458 | pathogenic | 0.615 | Stabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| D/S | 0.284 | likely_benign | 0.3061 | benign | -0.002 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/T | 0.5511 | ambiguous | 0.5535 | ambiguous | 0.118 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/V | 0.6165 | likely_pathogenic | 0.6636 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.607 | neutral | D | 0.54531773 | None | None | N |
| D/W | 0.9521 | likely_pathogenic | 0.9572 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| D/Y | 0.48 | ambiguous | 0.525 | ambiguous | 0.177 | Stabilizing | 1.0 | D | 0.648 | neutral | D | 0.545453052 | 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.