Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2116 | 6571;6572;6573 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| N2AB | 2116 | 6571;6572;6573 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| N2A | 2116 | 6571;6572;6573 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| N2B | 2070 | 6433;6434;6435 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| Novex-1 | 2070 | 6433;6434;6435 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| Novex-2 | 2070 | 6433;6434;6435 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
| Novex-3 | 2116 | 6571;6572;6573 | chr2:178775518;178775517;178775516 | chr2:179640245;179640244;179640243 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 0.994 | N | 0.437 | 0.292 | 0.684972698341 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-06 | 0 | 0 |
| V/I | rs1412544693  |
0.147 | 0.122 | N | 0.195 | 0.107 | 0.350524144436 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs1412544693 |
0.147 | 0.122 | N | 0.195 | 0.107 | 0.350524144436 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2392 | likely_benign | 0.2804 | benign | -0.681 | Destabilizing | 0.91 | D | 0.375 | neutral | N | 0.471721349 | None | None | N |
| V/C | 0.7728 | likely_pathogenic | 0.783 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.487 | neutral | None | None | None | None | N |
| V/D | 0.3778 | ambiguous | 0.4236 | ambiguous | -0.142 | Destabilizing | 0.998 | D | 0.641 | neutral | N | 0.483544074 | None | None | N |
| V/E | 0.228 | likely_benign | 0.2615 | benign | -0.194 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| V/F | 0.18 | likely_benign | 0.1967 | benign | -0.595 | Destabilizing | 0.994 | D | 0.437 | neutral | N | 0.503163805 | None | None | N |
| V/G | 0.2735 | likely_benign | 0.311 | benign | -0.877 | Destabilizing | 0.998 | D | 0.632 | neutral | N | 0.472708121 | None | None | N |
| V/H | 0.4924 | ambiguous | 0.5425 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| V/I | 0.0646 | likely_benign | 0.0657 | benign | -0.287 | Destabilizing | 0.122 | N | 0.195 | neutral | N | 0.421575226 | None | None | N |
| V/K | 0.2988 | likely_benign | 0.316 | benign | -0.562 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| V/L | 0.1678 | likely_benign | 0.1933 | benign | -0.287 | Destabilizing | 0.689 | D | 0.273 | neutral | N | 0.482466204 | None | None | N |
| V/M | 0.1078 | likely_benign | 0.1186 | benign | -0.48 | Destabilizing | 0.996 | D | 0.409 | neutral | None | None | None | None | N |
| V/N | 0.1969 | likely_benign | 0.2383 | benign | -0.468 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| V/P | 0.969 | likely_pathogenic | 0.9743 | pathogenic | -0.384 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| V/Q | 0.2204 | likely_benign | 0.2529 | benign | -0.604 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| V/R | 0.2951 | likely_benign | 0.3101 | benign | -0.088 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | N |
| V/S | 0.2282 | likely_benign | 0.2748 | benign | -0.924 | Destabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | N |
| V/T | 0.2044 | likely_benign | 0.2384 | benign | -0.861 | Destabilizing | 0.985 | D | 0.338 | neutral | None | None | None | None | N |
| V/W | 0.8344 | likely_pathogenic | 0.8428 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| V/Y | 0.5312 | ambiguous | 0.5634 | ambiguous | -0.412 | Destabilizing | 0.999 | D | 0.436 | neutral | 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.