Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14620 | 44083;44084;44085 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| N2AB | 12979 | 39160;39161;39162 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| N2A | 12052 | 36379;36380;36381 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| N2B | 5555 | 16888;16889;16890 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| Novex-1 | 5680 | 17263;17264;17265 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| Novex-2 | 5747 | 17464;17465;17466 | chr2:178631190;178631189;178631188 | chr2:179495917;179495916;179495915 |
| 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/N | rs1235935495  |
None | 0.999 | D | 0.665 | 0.41 | 0.301789629655 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs1235935495 |
None | 0.999 | D | 0.665 | 0.41 | 0.301789629655 | gnomAD-4.0.0 | 1.23982E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 8.47744E-07 | 0 | 0 |
| K/T | None | None | 0.999 | D | 0.705 | 0.551 | 0.471132149292 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9021 | likely_pathogenic | 0.8853 | pathogenic | -1.028 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| K/C | 0.9395 | likely_pathogenic | 0.9144 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/D | 0.9901 | likely_pathogenic | 0.9858 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| K/E | 0.7665 | likely_pathogenic | 0.7293 | pathogenic | -0.204 | Destabilizing | 0.996 | D | 0.507 | neutral | D | 0.734896418 | None | None | N |
| K/F | 0.9696 | likely_pathogenic | 0.9493 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| K/G | 0.9627 | likely_pathogenic | 0.9473 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/H | 0.7359 | likely_pathogenic | 0.6218 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| K/I | 0.7816 | likely_pathogenic | 0.7391 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| K/L | 0.7755 | likely_pathogenic | 0.7025 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/M | 0.6762 | likely_pathogenic | 0.6013 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.734186003 | None | None | N |
| K/N | 0.9537 | likely_pathogenic | 0.9261 | pathogenic | -0.778 | Destabilizing | 0.999 | D | 0.665 | neutral | D | 0.734186003 | None | None | N |
| K/P | 0.9924 | likely_pathogenic | 0.9915 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| K/Q | 0.4747 | ambiguous | 0.4075 | ambiguous | -0.789 | Destabilizing | 0.999 | D | 0.656 | neutral | D | 0.660416044 | None | None | N |
| K/R | 0.1056 | likely_benign | 0.0956 | benign | -0.718 | Destabilizing | 0.884 | D | 0.327 | neutral | N | 0.462475346 | None | None | N |
| K/S | 0.9449 | likely_pathogenic | 0.9223 | pathogenic | -1.528 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| K/T | 0.8364 | likely_pathogenic | 0.8006 | pathogenic | -1.138 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | D | 0.67609852 | None | None | N |
| K/V | 0.7881 | likely_pathogenic | 0.7537 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/W | 0.962 | likely_pathogenic | 0.9329 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| K/Y | 0.9322 | likely_pathogenic | 0.8983 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.758 | 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.