Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32754 | 98485;98486;98487 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| N2AB | 31113 | 93562;93563;93564 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| N2A | 30186 | 90781;90782;90783 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| N2B | 23689 | 71290;71291;71292 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| Novex-1 | 23814 | 71665;71666;71667 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| Novex-2 | 23881 | 71866;71867;71868 | chr2:178539805;178539804;178539803 | chr2:179404532;179404531;179404530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs192952263  |
-0.14 | 1.0 | N | 0.436 | 0.392 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs192952263 |
-0.14 | 1.0 | N | 0.436 | 0.392 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/C | rs192952263 |
-0.14 | 1.0 | N | 0.436 | 0.392 | None | gnomAD-4.0.0 | 2.02969E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.27273E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1252 | likely_benign | 0.1482 | benign | -0.394 | Destabilizing | 0.977 | D | 0.421 | neutral | N | 0.479937135 | None | None | N |
| S/C | 0.2198 | likely_benign | 0.2453 | benign | -0.202 | Destabilizing | 1.0 | D | 0.436 | neutral | N | 0.491038835 | None | None | N |
| S/D | 0.5408 | ambiguous | 0.5661 | pathogenic | -0.095 | Destabilizing | 0.993 | D | 0.356 | neutral | None | None | None | None | N |
| S/E | 0.7365 | likely_pathogenic | 0.7751 | pathogenic | -0.171 | Destabilizing | 0.985 | D | 0.337 | neutral | None | None | None | None | N |
| S/F | 0.4914 | ambiguous | 0.5479 | ambiguous | -0.837 | Destabilizing | 0.989 | D | 0.473 | neutral | N | 0.495426663 | None | None | N |
| S/G | 0.1234 | likely_benign | 0.1318 | benign | -0.554 | Destabilizing | 0.993 | D | 0.349 | neutral | None | None | None | None | N |
| S/H | 0.5965 | likely_pathogenic | 0.6186 | pathogenic | -1.076 | Destabilizing | 0.171 | N | 0.27 | neutral | None | None | None | None | N |
| S/I | 0.513 | ambiguous | 0.5768 | pathogenic | -0.096 | Destabilizing | 0.998 | D | 0.51 | neutral | None | None | None | None | N |
| S/K | 0.872 | likely_pathogenic | 0.8756 | pathogenic | -0.631 | Destabilizing | 0.993 | D | 0.355 | neutral | None | None | None | None | N |
| S/L | 0.1923 | likely_benign | 0.218 | benign | -0.096 | Destabilizing | 0.985 | D | 0.439 | neutral | None | None | None | None | N |
| S/M | 0.3551 | ambiguous | 0.3968 | ambiguous | 0.227 | Stabilizing | 1.0 | D | 0.411 | neutral | None | None | None | None | N |
| S/N | 0.239 | likely_benign | 0.2543 | benign | -0.353 | Destabilizing | 0.985 | D | 0.419 | neutral | None | None | None | None | N |
| S/P | 0.9288 | likely_pathogenic | 0.9483 | pathogenic | -0.164 | Destabilizing | 0.999 | D | 0.378 | neutral | N | 0.499389688 | None | None | N |
| S/Q | 0.7494 | likely_pathogenic | 0.7745 | pathogenic | -0.601 | Destabilizing | 0.998 | D | 0.38 | neutral | None | None | None | None | N |
| S/R | 0.8352 | likely_pathogenic | 0.8557 | pathogenic | -0.397 | Destabilizing | 0.996 | D | 0.345 | neutral | None | None | None | None | N |
| S/T | 0.0961 | likely_benign | 0.0996 | benign | -0.42 | Destabilizing | 0.99 | D | 0.392 | neutral | N | 0.41909932 | None | None | N |
| S/V | 0.4223 | ambiguous | 0.4804 | ambiguous | -0.164 | Destabilizing | 0.996 | D | 0.45 | neutral | None | None | None | None | N |
| S/W | 0.6492 | likely_pathogenic | 0.7072 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| S/Y | 0.4355 | ambiguous | 0.4886 | ambiguous | -0.585 | Destabilizing | 0.606 | D | 0.319 | neutral | N | 0.499736404 | 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.