Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14656 | 44191;44192;44193 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| N2AB | 13015 | 39268;39269;39270 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| N2A | 12088 | 36487;36488;36489 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| N2B | 5591 | 16996;16997;16998 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| Novex-1 | 5716 | 17371;17372;17373 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| Novex-2 | 5783 | 17572;17573;17574 | chr2:178631082;178631081;178631080 | chr2:179495809;179495808;179495807 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1001069675  |
None | 0.956 | D | 0.714 | 0.354 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1001069675 |
None | 0.956 | D | 0.714 | 0.354 | None | gnomAD-4.0.0 | 4.33927E-06 | None | None | None | None | N | None | 8.01346E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60195E-05 |
| T/N | rs1001069675 |
None | 0.994 | D | 0.69 | 0.387 | 0.499154427049 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs1001069675 |
None | 0.994 | D | 0.69 | 0.387 | 0.499154427049 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47059E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1461 | likely_benign | 0.1524 | benign | -1.411 | Destabilizing | 0.9 | D | 0.585 | neutral | D | 0.527036571 | None | None | N |
| T/C | 0.6408 | likely_pathogenic | 0.6518 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/D | 0.5834 | likely_pathogenic | 0.5792 | pathogenic | -1.772 | Destabilizing | 0.995 | D | 0.767 | deleterious | None | None | None | None | N |
| T/E | 0.4086 | ambiguous | 0.3875 | ambiguous | -1.503 | Destabilizing | 0.995 | D | 0.775 | deleterious | None | None | None | None | N |
| T/F | 0.3049 | likely_benign | 0.3084 | benign | -0.981 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| T/G | 0.5281 | ambiguous | 0.5352 | ambiguous | -1.843 | Destabilizing | 0.983 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/H | 0.346 | ambiguous | 0.3564 | ambiguous | -1.73 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/I | 0.1709 | likely_benign | 0.1651 | benign | -0.238 | Destabilizing | 0.956 | D | 0.714 | prob.delet. | D | 0.556894761 | None | None | N |
| T/K | 0.3789 | ambiguous | 0.3857 | ambiguous | -0.185 | Destabilizing | 0.995 | D | 0.769 | deleterious | None | None | None | None | N |
| T/L | 0.1841 | likely_benign | 0.1853 | benign | -0.238 | Destabilizing | 0.967 | D | 0.655 | neutral | None | None | None | None | N |
| T/M | 0.1331 | likely_benign | 0.1349 | benign | -0.415 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| T/N | 0.2294 | likely_benign | 0.2338 | benign | -1.074 | Destabilizing | 0.994 | D | 0.69 | prob.neutral | D | 0.652372479 | None | None | N |
| T/P | 0.8187 | likely_pathogenic | 0.8531 | pathogenic | -0.603 | Destabilizing | 0.997 | D | 0.799 | deleterious | D | 0.689945608 | None | None | N |
| T/Q | 0.3469 | ambiguous | 0.3548 | ambiguous | -0.723 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| T/R | 0.2595 | likely_benign | 0.2672 | benign | -0.579 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| T/S | 0.1507 | likely_benign | 0.1464 | benign | -1.322 | Destabilizing | 0.63 | D | 0.419 | neutral | N | 0.460277622 | None | None | N |
| T/V | 0.1813 | likely_benign | 0.1688 | benign | -0.603 | Destabilizing | 0.437 | N | 0.433 | neutral | None | None | None | None | N |
| T/W | 0.7397 | likely_pathogenic | 0.7312 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/Y | 0.3993 | ambiguous | 0.3993 | ambiguous | -0.765 | Destabilizing | 0.999 | D | 0.797 | 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.