Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2752 | 8479;8480;8481 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| N2AB | 2752 | 8479;8480;8481 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| N2A | 2752 | 8479;8480;8481 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| N2B | 2706 | 8341;8342;8343 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| Novex-1 | 2706 | 8341;8342;8343 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| Novex-2 | 2706 | 8341;8342;8343 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
| Novex-3 | 2752 | 8479;8480;8481 | chr2:178770538;178770537;178770536 | chr2:179635265;179635264;179635263 |
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 | rs1253422827  |
-0.913 | 1.0 | D | 0.7 | 0.484 | 0.40417439687 | 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 |
| K/N | rs1253422827 |
-0.913 | 1.0 | D | 0.7 | 0.484 | 0.40417439687 | gnomAD-4.0.0 | 3.18098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7965 | likely_pathogenic | 0.8467 | pathogenic | -0.647 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| K/C | 0.9197 | likely_pathogenic | 0.9469 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/D | 0.7829 | likely_pathogenic | 0.8279 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/E | 0.5719 | likely_pathogenic | 0.6312 | pathogenic | -0.044 | Destabilizing | 0.999 | D | 0.519 | neutral | D | 0.660740027 | None | None | N |
| K/F | 0.9483 | likely_pathogenic | 0.9658 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/G | 0.8428 | likely_pathogenic | 0.886 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| K/H | 0.5406 | ambiguous | 0.6135 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/I | 0.6948 | likely_pathogenic | 0.7744 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/L | 0.7051 | likely_pathogenic | 0.7812 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| K/M | 0.5561 | ambiguous | 0.6261 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.654 | neutral | D | 0.69752613 | None | None | N |
| K/N | 0.6078 | likely_pathogenic | 0.6717 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.608440503 | None | None | N |
| K/P | 0.9394 | likely_pathogenic | 0.9595 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| K/Q | 0.369 | ambiguous | 0.4304 | ambiguous | -0.574 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.607283979 | None | None | N |
| K/R | 0.1181 | likely_benign | 0.135 | benign | -0.69 | Destabilizing | 0.999 | D | 0.533 | neutral | D | 0.529192028 | None | None | N |
| K/S | 0.8106 | likely_pathogenic | 0.8632 | pathogenic | -1.206 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| K/T | 0.4647 | ambiguous | 0.5211 | ambiguous | -0.861 | Destabilizing | 1.0 | D | 0.67 | neutral | D | 0.58851593 | None | None | N |
| K/V | 0.7191 | likely_pathogenic | 0.7965 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| K/W | 0.9245 | likely_pathogenic | 0.947 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/Y | 0.81 | likely_pathogenic | 0.8621 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.628 | 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.