Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2703 | 8332;8333;8334 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| N2AB | 2703 | 8332;8333;8334 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| N2A | 2703 | 8332;8333;8334 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| N2B | 2657 | 8194;8195;8196 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| Novex-1 | 2657 | 8194;8195;8196 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| Novex-2 | 2657 | 8194;8195;8196 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
| Novex-3 | 2703 | 8332;8333;8334 | chr2:178771220;178771219;178771218 | chr2:179635947;179635946;179635945 |
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 | rs2091436984  |
None | 0.896 | N | 0.557 | 0.303 | 0.297031009988 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs2091436984 |
None | 0.896 | N | 0.557 | 0.303 | 0.297031009988 | gnomAD-4.0.0 | 1.85881E-06 | None | None | None | None | N | None | 2.6688E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60061E-05 |
| K/N | rs1561231770 |
None | 0.896 | N | 0.548 | 0.242 | 0.253205268125 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| K/T | rs2091436696 |
None | 0.984 | N | 0.601 | 0.317 | 0.3349148499 | gnomAD-4.0.0 | 1.59078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 | 0.3368 | likely_benign | 0.4203 | ambiguous | -0.377 | Destabilizing | 0.919 | D | 0.587 | neutral | None | None | None | None | N |
| K/C | 0.7386 | likely_pathogenic | 0.806 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| K/D | 0.5171 | ambiguous | 0.6511 | pathogenic | 0.037 | Stabilizing | 0.976 | D | 0.613 | neutral | None | None | None | None | N |
| K/E | 0.1682 | likely_benign | 0.23 | benign | 0.138 | Stabilizing | 0.896 | D | 0.557 | neutral | N | 0.479528391 | None | None | N |
| K/F | 0.6754 | likely_pathogenic | 0.7636 | pathogenic | -0.095 | Destabilizing | 0.988 | D | 0.73 | prob.delet. | None | None | None | None | N |
| K/G | 0.5762 | likely_pathogenic | 0.6732 | pathogenic | -0.716 | Destabilizing | 0.919 | D | 0.634 | neutral | None | None | None | None | N |
| K/H | 0.2363 | likely_benign | 0.2902 | benign | -0.923 | Destabilizing | 0.159 | N | 0.427 | neutral | None | None | None | None | N |
| K/I | 0.2478 | likely_benign | 0.3303 | benign | 0.486 | Stabilizing | 0.984 | D | 0.729 | prob.delet. | N | 0.46790958 | None | None | N |
| K/L | 0.2974 | likely_benign | 0.3741 | ambiguous | 0.486 | Stabilizing | 0.919 | D | 0.637 | neutral | None | None | None | None | N |
| K/M | 0.1894 | likely_benign | 0.2421 | benign | 0.156 | Stabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| K/N | 0.2833 | likely_benign | 0.4045 | ambiguous | -0.323 | Destabilizing | 0.896 | D | 0.548 | neutral | N | 0.461294743 | None | None | N |
| K/P | 0.9424 | likely_pathogenic | 0.9582 | pathogenic | 0.229 | Stabilizing | 0.996 | D | 0.638 | neutral | None | None | None | None | N |
| K/Q | 0.122 | likely_benign | 0.1428 | benign | -0.354 | Destabilizing | 0.968 | D | 0.587 | neutral | N | 0.497099735 | None | None | N |
| K/R | 0.0855 | likely_benign | 0.0921 | benign | -0.44 | Destabilizing | 0.026 | N | 0.175 | neutral | N | 0.421081044 | None | None | N |
| K/S | 0.3471 | ambiguous | 0.4567 | ambiguous | -0.923 | Destabilizing | 0.919 | D | 0.544 | neutral | None | None | None | None | N |
| K/T | 0.1208 | likely_benign | 0.163 | benign | -0.622 | Destabilizing | 0.984 | D | 0.601 | neutral | N | 0.435797346 | None | None | N |
| K/V | 0.2596 | likely_benign | 0.3276 | benign | 0.229 | Stabilizing | 0.988 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/W | 0.7212 | likely_pathogenic | 0.7879 | pathogenic | -0.02 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/Y | 0.5531 | ambiguous | 0.6693 | pathogenic | 0.267 | Stabilizing | 0.976 | D | 0.706 | 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.