Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21056 | 63391;63392;63393 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| N2AB | 19415 | 58468;58469;58470 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| N2A | 18488 | 55687;55688;55689 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| N2B | 11991 | 36196;36197;36198 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| Novex-1 | 12116 | 36571;36572;36573 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| Novex-2 | 12183 | 36772;36773;36774 | chr2:178588559;178588558;178588557 | chr2:179453286;179453285;179453284 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | None | None | 0.278 | N | 0.471 | 0.195 | 0.376570364461 | gnomAD-4.0.0 | 7.24987E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.30125E-07 | 0 | 0 |
| V/M | None | None | 0.93 | N | 0.547 | 0.217 | 0.463758542814 | gnomAD-4.0.0 | 2.17496E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86025E-06 | 0 | 1.76199E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1362 | likely_benign | 0.1299 | benign | -1.708 | Destabilizing | 0.006 | N | 0.21 | neutral | N | 0.50612558 | None | None | N |
| V/C | 0.6164 | likely_pathogenic | 0.5831 | pathogenic | -1.084 | Destabilizing | 0.985 | D | 0.574 | neutral | None | None | None | None | N |
| V/D | 0.7329 | likely_pathogenic | 0.6766 | pathogenic | -2.031 | Highly Destabilizing | 0.946 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/E | 0.4946 | ambiguous | 0.4702 | ambiguous | -1.913 | Destabilizing | 0.868 | D | 0.597 | neutral | N | 0.49563465 | None | None | N |
| V/F | 0.1838 | likely_benign | 0.1782 | benign | -1.074 | Destabilizing | 0.946 | D | 0.593 | neutral | None | None | None | None | N |
| V/G | 0.3687 | ambiguous | 0.3273 | benign | -2.138 | Highly Destabilizing | 0.483 | N | 0.663 | prob.neutral | N | 0.496395119 | None | None | N |
| V/H | 0.6792 | likely_pathogenic | 0.6353 | pathogenic | -1.777 | Destabilizing | 0.995 | D | 0.739 | deleterious | None | None | None | None | N |
| V/I | 0.0809 | likely_benign | 0.081 | benign | -0.566 | Destabilizing | 0.014 | N | 0.141 | neutral | None | None | None | None | N |
| V/K | 0.562 | ambiguous | 0.5236 | ambiguous | -1.599 | Destabilizing | 0.897 | D | 0.604 | neutral | None | None | None | None | N |
| V/L | 0.2117 | likely_benign | 0.1976 | benign | -0.566 | Destabilizing | 0.278 | N | 0.471 | neutral | N | 0.507317659 | None | None | N |
| V/M | 0.1394 | likely_benign | 0.1371 | benign | -0.421 | Destabilizing | 0.93 | D | 0.547 | neutral | N | 0.469390094 | None | None | N |
| V/N | 0.5495 | ambiguous | 0.4844 | ambiguous | -1.629 | Destabilizing | 0.946 | D | 0.735 | deleterious | None | None | None | None | N |
| V/P | 0.9501 | likely_pathogenic | 0.9293 | pathogenic | -0.916 | Destabilizing | 0.946 | D | 0.586 | neutral | None | None | None | None | N |
| V/Q | 0.4459 | ambiguous | 0.4181 | ambiguous | -1.638 | Destabilizing | 0.946 | D | 0.639 | neutral | None | None | None | None | N |
| V/R | 0.4852 | ambiguous | 0.4393 | ambiguous | -1.2 | Destabilizing | 0.946 | D | 0.739 | deleterious | None | None | None | None | N |
| V/S | 0.2802 | likely_benign | 0.2427 | benign | -2.161 | Highly Destabilizing | 0.553 | D | 0.566 | neutral | None | None | None | None | N |
| V/T | 0.1568 | likely_benign | 0.1487 | benign | -1.922 | Destabilizing | 0.032 | N | 0.399 | neutral | None | None | None | None | N |
| V/W | 0.8491 | likely_pathogenic | 0.8346 | pathogenic | -1.486 | Destabilizing | 0.995 | D | 0.765 | deleterious | None | None | None | None | N |
| V/Y | 0.5711 | likely_pathogenic | 0.5279 | ambiguous | -1.117 | Destabilizing | 0.982 | D | 0.613 | 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.