Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27326 | 82201;82202;82203 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| N2AB | 25685 | 77278;77279;77280 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| N2A | 24758 | 74497;74498;74499 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| N2B | 18261 | 55006;55007;55008 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| Novex-1 | 18386 | 55381;55382;55383 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| Novex-2 | 18453 | 55582;55583;55584 | chr2:178564156;178564155;178564154 | chr2:179428883;179428882;179428881 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.996 | N | 0.525 | 0.382 | 0.381746406553 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85837E-06 | 0 | 0 |
| K/I | None | None | 1.0 | N | 0.732 | 0.501 | 0.586326688876 | gnomAD-4.0.0 | 2.73688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69845E-06 | 0 | 1.65673E-05 |
| K/Q | rs747862533  |
0.364 | 0.999 | N | 0.659 | 0.38 | 0.366659145958 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| K/Q | rs747862533 |
0.364 | 0.999 | N | 0.659 | 0.38 | 0.366659145958 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85837E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3026 | likely_benign | 0.358 | ambiguous | -0.06 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| K/C | 0.5339 | ambiguous | 0.6084 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/D | 0.5682 | likely_pathogenic | 0.6266 | pathogenic | 0.224 | Stabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| K/E | 0.1838 | likely_benign | 0.2118 | benign | 0.235 | Stabilizing | 0.996 | D | 0.525 | neutral | N | 0.477782264 | None | None | N |
| K/F | 0.5991 | likely_pathogenic | 0.6882 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/G | 0.4783 | ambiguous | 0.538 | ambiguous | -0.279 | Destabilizing | 0.997 | D | 0.591 | neutral | None | None | None | None | N |
| K/H | 0.193 | likely_benign | 0.2261 | benign | -0.7 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/I | 0.213 | likely_benign | 0.2571 | benign | 0.443 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.515244574 | None | None | N |
| K/L | 0.281 | likely_benign | 0.3329 | benign | 0.443 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| K/M | 0.1948 | likely_benign | 0.231 | benign | 0.396 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/N | 0.3431 | ambiguous | 0.4014 | ambiguous | 0.327 | Stabilizing | 0.884 | D | 0.3 | neutral | N | 0.487493663 | None | None | N |
| K/P | 0.9212 | likely_pathogenic | 0.9335 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1141 | likely_benign | 0.1275 | benign | 0.106 | Stabilizing | 0.999 | D | 0.659 | neutral | N | 0.509817325 | None | None | N |
| K/R | 0.0772 | likely_benign | 0.0825 | benign | 0.002 | Stabilizing | 0.998 | D | 0.527 | neutral | N | 0.470317574 | None | None | N |
| K/S | 0.3218 | likely_benign | 0.3711 | ambiguous | -0.242 | Destabilizing | 0.997 | D | 0.544 | neutral | None | None | None | None | N |
| K/T | 0.1177 | likely_benign | 0.1355 | benign | -0.072 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.470720219 | None | None | N |
| K/V | 0.2247 | likely_benign | 0.2653 | benign | 0.305 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/W | 0.646 | likely_pathogenic | 0.7188 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| K/Y | 0.4867 | ambiguous | 0.5713 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.707 | prob.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.