Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9048 | 27367;27368;27369 | chr2:178712883;178712882;178712881 | chr2:179577610;179577609;179577608 |
N2AB | 8731 | 26416;26417;26418 | chr2:178712883;178712882;178712881 | chr2:179577610;179577609;179577608 |
N2A | 7804 | 23635;23636;23637 | chr2:178712883;178712882;178712881 | chr2:179577610;179577609;179577608 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/L | None | None | 0.002 | N | 0.099 | 0.189 | 0.317084106153 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43365E-05 | 0 |
F/V | None | None | 0.454 | N | 0.373 | 0.205 | 0.433823933641 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 5.65611E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/A | 0.8278 | likely_pathogenic | 0.8278 | pathogenic | -2.569 | Highly Destabilizing | 0.688 | D | 0.397 | neutral | None | None | None | None | N |
F/C | 0.5208 | ambiguous | 0.4986 | ambiguous | -1.537 | Destabilizing | 0.997 | D | 0.559 | neutral | N | 0.503240834 | None | None | N |
F/D | 0.976 | likely_pathogenic | 0.976 | pathogenic | -1.13 | Destabilizing | 0.991 | D | 0.61 | neutral | None | None | None | None | N |
F/E | 0.9772 | likely_pathogenic | 0.9777 | pathogenic | -1.015 | Destabilizing | 0.991 | D | 0.617 | neutral | None | None | None | None | N |
F/G | 0.9395 | likely_pathogenic | 0.9403 | pathogenic | -2.939 | Highly Destabilizing | 0.991 | D | 0.597 | neutral | None | None | None | None | N |
F/H | 0.8628 | likely_pathogenic | 0.8454 | pathogenic | -1.162 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
F/I | 0.3282 | likely_benign | 0.3164 | benign | -1.431 | Destabilizing | 0.051 | N | 0.128 | neutral | N | 0.478107551 | None | None | N |
F/K | 0.9685 | likely_pathogenic | 0.9668 | pathogenic | -1.462 | Destabilizing | 0.974 | D | 0.618 | neutral | None | None | None | None | N |
F/L | 0.6866 | likely_pathogenic | 0.6578 | pathogenic | -1.431 | Destabilizing | 0.002 | N | 0.099 | neutral | N | 0.433737912 | None | None | N |
F/M | 0.5542 | ambiguous | 0.5503 | ambiguous | -1.184 | Destabilizing | 0.949 | D | 0.498 | neutral | None | None | None | None | N |
F/N | 0.9186 | likely_pathogenic | 0.9114 | pathogenic | -1.465 | Destabilizing | 0.991 | D | 0.616 | neutral | None | None | None | None | N |
F/P | 0.9667 | likely_pathogenic | 0.9648 | pathogenic | -1.808 | Destabilizing | 0.991 | D | 0.616 | neutral | None | None | None | None | N |
F/Q | 0.9378 | likely_pathogenic | 0.9362 | pathogenic | -1.539 | Destabilizing | 0.991 | D | 0.614 | neutral | None | None | None | None | N |
F/R | 0.9265 | likely_pathogenic | 0.9234 | pathogenic | -0.808 | Destabilizing | 0.974 | D | 0.613 | neutral | None | None | None | None | N |
F/S | 0.8047 | likely_pathogenic | 0.8071 | pathogenic | -2.379 | Highly Destabilizing | 0.891 | D | 0.517 | neutral | N | 0.511932124 | None | None | N |
F/T | 0.8742 | likely_pathogenic | 0.871 | pathogenic | -2.167 | Highly Destabilizing | 0.915 | D | 0.489 | neutral | None | None | None | None | N |
F/V | 0.306 | likely_benign | 0.2991 | benign | -1.808 | Destabilizing | 0.454 | N | 0.373 | neutral | N | 0.497770748 | None | None | N |
F/W | 0.6604 | likely_pathogenic | 0.6573 | pathogenic | -0.42 | Destabilizing | 0.998 | D | 0.489 | neutral | None | None | None | None | N |
F/Y | 0.26 | likely_benign | 0.2372 | benign | -0.707 | Destabilizing | 0.891 | D | 0.467 | neutral | N | 0.514068352 | 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.