Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17691 | 53296;53297;53298 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| N2AB | 16050 | 48373;48374;48375 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| N2A | 15123 | 45592;45593;45594 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| N2B | 8626 | 26101;26102;26103 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| Novex-1 | 8751 | 26476;26477;26478 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| Novex-2 | 8818 | 26677;26678;26679 | chr2:178607617;178607616;178607615 | chr2:179472344;179472343;179472342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1450047709  |
-1.033 | 0.324 | N | 0.529 | 0.181 | 0.33340067248 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs1450047709 |
-1.033 | 0.324 | N | 0.529 | 0.181 | 0.33340067248 | gnomAD-4.0.0 | 5.47579E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52296E-05 | None | 0 | 0 | 6.29802E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4947 | ambiguous | 0.4976 | ambiguous | -0.635 | Destabilizing | 0.116 | N | 0.54 | neutral | None | None | None | None | N |
| R/C | 0.1466 | likely_benign | 0.1399 | benign | -0.694 | Destabilizing | 0.981 | D | 0.561 | neutral | None | None | None | None | N |
| R/D | 0.8437 | likely_pathogenic | 0.8565 | pathogenic | -0.032 | Destabilizing | 0.388 | N | 0.552 | neutral | None | None | None | None | N |
| R/E | 0.476 | ambiguous | 0.4954 | ambiguous | 0.12 | Stabilizing | 0.241 | N | 0.541 | neutral | None | None | None | None | N |
| R/F | 0.5734 | likely_pathogenic | 0.5756 | pathogenic | -0.324 | Destabilizing | 0.818 | D | 0.562 | neutral | None | None | None | None | N |
| R/G | 0.5225 | ambiguous | 0.5319 | ambiguous | -0.968 | Destabilizing | 0.324 | N | 0.529 | neutral | N | 0.47594919 | None | None | N |
| R/H | 0.0921 | likely_benign | 0.0915 | benign | -1.247 | Destabilizing | 0.005 | N | 0.387 | neutral | None | None | None | None | N |
| R/I | 0.1967 | likely_benign | 0.1974 | benign | 0.262 | Stabilizing | 0.627 | D | 0.57 | neutral | N | 0.479122619 | None | None | N |
| R/K | 0.1 | likely_benign | 0.0917 | benign | -0.636 | Destabilizing | 0.001 | N | 0.282 | neutral | N | 0.425616208 | None | None | N |
| R/L | 0.2514 | likely_benign | 0.257 | benign | 0.262 | Stabilizing | 0.241 | N | 0.531 | neutral | None | None | None | None | N |
| R/M | 0.2592 | likely_benign | 0.2546 | benign | -0.269 | Destabilizing | 0.981 | D | 0.546 | neutral | None | None | None | None | N |
| R/N | 0.6285 | likely_pathogenic | 0.6336 | pathogenic | -0.337 | Destabilizing | 0.388 | N | 0.516 | neutral | None | None | None | None | N |
| R/P | 0.9514 | likely_pathogenic | 0.9559 | pathogenic | -0.016 | Destabilizing | 0.818 | D | 0.543 | neutral | None | None | None | None | N |
| R/Q | 0.1294 | likely_benign | 0.1288 | benign | -0.369 | Destabilizing | 0.241 | N | 0.549 | neutral | None | None | None | None | N |
| R/S | 0.5496 | ambiguous | 0.5573 | ambiguous | -1.016 | Destabilizing | 0.193 | N | 0.544 | neutral | N | 0.472196647 | None | None | N |
| R/T | 0.2115 | likely_benign | 0.2104 | benign | -0.67 | Destabilizing | 0.006 | N | 0.397 | neutral | N | 0.448604924 | None | None | N |
| R/V | 0.2553 | likely_benign | 0.2546 | benign | -0.016 | Destabilizing | 0.241 | N | 0.557 | neutral | None | None | None | None | N |
| R/W | 0.2224 | likely_benign | 0.2286 | benign | -0.03 | Destabilizing | 0.981 | D | 0.602 | neutral | None | None | None | None | N |
| R/Y | 0.4546 | ambiguous | 0.4586 | ambiguous | 0.253 | Stabilizing | 0.69 | D | 0.559 | 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.