Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9055 | 27388;27389;27390 | chr2:178712862;178712861;178712860 | chr2:179577589;179577588;179577587 |
| N2AB | 8738 | 26437;26438;26439 | chr2:178712862;178712861;178712860 | chr2:179577589;179577588;179577587 |
| N2A | 7811 | 23656;23657;23658 | chr2:178712862;178712861;178712860 | chr2:179577589;179577588;179577587 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1297995123  |
None | 0.011 | N | 0.261 | 0.171 | 0.0920862733494 | 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 |
| G/D | rs1297995123 |
None | 0.011 | N | 0.261 | 0.171 | 0.0920862733494 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| G/R | rs776617677 |
0.004 | 0.968 | N | 0.589 | 0.328 | 0.464442853059 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/V | None | None | 0.984 | N | 0.64 | 0.241 | 0.535152128566 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2361 | likely_benign | 0.2341 | benign | -0.273 | Destabilizing | 0.896 | D | 0.423 | neutral | N | 0.459606135 | None | None | N |
| G/C | 0.4562 | ambiguous | 0.4939 | ambiguous | -0.84 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.506463388 | None | None | N |
| G/D | 0.1533 | likely_benign | 0.1759 | benign | 0.015 | Stabilizing | 0.011 | N | 0.261 | neutral | N | 0.404083356 | None | None | N |
| G/E | 0.2726 | likely_benign | 0.3069 | benign | -0.1 | Destabilizing | 0.034 | N | 0.375 | neutral | None | None | None | None | N |
| G/F | 0.7253 | likely_pathogenic | 0.7593 | pathogenic | -0.766 | Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | N |
| G/H | 0.5536 | ambiguous | 0.6036 | pathogenic | -0.601 | Destabilizing | 0.997 | D | 0.592 | neutral | None | None | None | None | N |
| G/I | 0.5833 | likely_pathogenic | 0.6304 | pathogenic | -0.194 | Destabilizing | 0.988 | D | 0.65 | neutral | None | None | None | None | N |
| G/K | 0.6304 | likely_pathogenic | 0.6936 | pathogenic | -0.665 | Destabilizing | 0.851 | D | 0.56 | neutral | None | None | None | None | N |
| G/L | 0.6397 | likely_pathogenic | 0.6666 | pathogenic | -0.194 | Destabilizing | 0.976 | D | 0.637 | neutral | None | None | None | None | N |
| G/M | 0.6942 | likely_pathogenic | 0.7214 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| G/N | 0.2538 | likely_benign | 0.2743 | benign | -0.359 | Destabilizing | 0.132 | N | 0.246 | neutral | None | None | None | None | N |
| G/P | 0.9507 | likely_pathogenic | 0.9574 | pathogenic | -0.182 | Destabilizing | 0.988 | D | 0.59 | neutral | None | None | None | None | N |
| G/Q | 0.4996 | ambiguous | 0.5426 | ambiguous | -0.536 | Destabilizing | 0.952 | D | 0.585 | neutral | None | None | None | None | N |
| G/R | 0.536 | ambiguous | 0.5963 | pathogenic | -0.39 | Destabilizing | 0.968 | D | 0.589 | neutral | N | 0.461999218 | None | None | N |
| G/S | 0.1559 | likely_benign | 0.1592 | benign | -0.65 | Destabilizing | 0.896 | D | 0.426 | neutral | N | 0.461238749 | None | None | N |
| G/T | 0.4166 | ambiguous | 0.4378 | ambiguous | -0.668 | Destabilizing | 0.976 | D | 0.559 | neutral | None | None | None | None | N |
| G/V | 0.4062 | ambiguous | 0.4455 | ambiguous | -0.182 | Destabilizing | 0.984 | D | 0.64 | neutral | N | 0.474280576 | None | None | N |
| G/W | 0.6086 | likely_pathogenic | 0.6608 | pathogenic | -0.99 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
| G/Y | 0.5144 | ambiguous | 0.5607 | ambiguous | -0.588 | Destabilizing | 0.996 | D | 0.639 | 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.