Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27327 | 82204;82205;82206 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| N2AB | 25686 | 77281;77282;77283 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| N2A | 24759 | 74500;74501;74502 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| N2B | 18262 | 55009;55010;55011 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| Novex-1 | 18387 | 55384;55385;55386 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| Novex-2 | 18454 | 55585;55586;55587 | chr2:178564153;178564152;178564151 | chr2:179428880;179428879;179428878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs1350432000  |
-0.285 | 0.906 | N | 0.438 | 0.142 | None | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29463E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs1350432000 |
-0.285 | 0.906 | N | 0.438 | 0.142 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs1350432000 |
-0.285 | 0.906 | N | 0.438 | 0.142 | None | gnomAD-4.0.0 | 2.62961E-05 | None | None | None | None | N | None | 9.65204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1035 | likely_benign | 0.1077 | benign | -0.386 | Destabilizing | 0.906 | D | 0.438 | neutral | N | 0.480974498 | None | None | N |
| S/C | 0.1354 | likely_benign | 0.1457 | benign | -0.23 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.486555384 | None | None | N |
| S/D | 0.4473 | ambiguous | 0.397 | ambiguous | 0.398 | Stabilizing | 0.984 | D | 0.527 | neutral | None | None | None | None | N |
| S/E | 0.5691 | likely_pathogenic | 0.5349 | ambiguous | 0.307 | Stabilizing | 0.969 | D | 0.517 | neutral | None | None | None | None | N |
| S/F | 0.3371 | likely_benign | 0.3461 | ambiguous | -0.986 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | D | 0.532384754 | None | None | N |
| S/G | 0.1037 | likely_benign | 0.0994 | benign | -0.497 | Destabilizing | 0.963 | D | 0.505 | neutral | None | None | None | None | N |
| S/H | 0.3814 | ambiguous | 0.3628 | ambiguous | -1.06 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| S/I | 0.2785 | likely_benign | 0.2936 | benign | -0.224 | Destabilizing | 0.991 | D | 0.669 | neutral | None | None | None | None | N |
| S/K | 0.6796 | likely_pathogenic | 0.6384 | pathogenic | -0.328 | Destabilizing | 0.293 | N | 0.267 | neutral | None | None | None | None | N |
| S/L | 0.1531 | likely_benign | 0.1662 | benign | -0.224 | Destabilizing | 0.969 | D | 0.625 | neutral | None | None | None | None | N |
| S/M | 0.223 | likely_benign | 0.2358 | benign | 0.037 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| S/N | 0.1221 | likely_benign | 0.1119 | benign | -0.061 | Destabilizing | 0.984 | D | 0.545 | neutral | None | None | None | None | N |
| S/P | 0.5223 | ambiguous | 0.5288 | ambiguous | -0.25 | Destabilizing | 0.998 | D | 0.613 | neutral | N | 0.514492426 | None | None | N |
| S/Q | 0.5378 | ambiguous | 0.5213 | ambiguous | -0.304 | Destabilizing | 0.991 | D | 0.598 | neutral | None | None | None | None | N |
| S/R | 0.6537 | likely_pathogenic | 0.6196 | pathogenic | -0.203 | Destabilizing | 0.939 | D | 0.595 | neutral | None | None | None | None | N |
| S/T | 0.0786 | likely_benign | 0.0799 | benign | -0.193 | Destabilizing | 0.116 | N | 0.27 | neutral | N | 0.445747204 | None | None | N |
| S/V | 0.2572 | likely_benign | 0.2722 | benign | -0.25 | Destabilizing | 0.969 | D | 0.615 | neutral | None | None | None | None | N |
| S/W | 0.439 | ambiguous | 0.4409 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| S/Y | 0.1983 | likely_benign | 0.2028 | benign | -0.689 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | N | 0.515433789 | 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.