Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6718 | 20377;20378;20379 | chr2:178727213;178727212;178727211 | chr2:179591940;179591939;179591938 |
N2AB | 6401 | 19426;19427;19428 | chr2:178727213;178727212;178727211 | chr2:179591940;179591939;179591938 |
N2A | 5474 | 16645;16646;16647 | chr2:178727213;178727212;178727211 | chr2:179591940;179591939;179591938 |
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 | 0.92 | N | 0.575 | 0.284 | 0.662550749481 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 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 | 0.8997 | likely_pathogenic | 0.8853 | pathogenic | -1.907 | Destabilizing | 0.973 | D | 0.715 | prob.delet. | None | None | None | None | N |
F/C | 0.8331 | likely_pathogenic | 0.7596 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.509988783 | None | None | N |
F/D | 0.9668 | likely_pathogenic | 0.9658 | pathogenic | -0.175 | Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
F/E | 0.9692 | likely_pathogenic | 0.9659 | pathogenic | -0.07 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
F/G | 0.9606 | likely_pathogenic | 0.9555 | pathogenic | -2.247 | Highly Destabilizing | 0.994 | D | 0.762 | deleterious | None | None | None | None | N |
F/H | 0.8636 | likely_pathogenic | 0.8511 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
F/I | 0.5411 | ambiguous | 0.4995 | ambiguous | -0.898 | Destabilizing | 0.965 | D | 0.6 | neutral | D | 0.533827548 | None | None | N |
F/K | 0.9712 | likely_pathogenic | 0.9694 | pathogenic | -1.015 | Destabilizing | 0.996 | D | 0.777 | deleterious | None | None | None | None | N |
F/L | 0.9396 | likely_pathogenic | 0.9392 | pathogenic | -0.898 | Destabilizing | 0.92 | D | 0.575 | neutral | N | 0.517492659 | None | None | N |
F/M | 0.7555 | likely_pathogenic | 0.7438 | pathogenic | -0.735 | Destabilizing | 0.98 | D | 0.669 | neutral | None | None | None | None | N |
F/N | 0.9076 | likely_pathogenic | 0.9008 | pathogenic | -1.106 | Destabilizing | 0.998 | D | 0.8 | deleterious | None | None | None | None | N |
F/P | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
F/Q | 0.9501 | likely_pathogenic | 0.9425 | pathogenic | -1.092 | Destabilizing | 0.997 | D | 0.801 | deleterious | None | None | None | None | N |
F/R | 0.9334 | likely_pathogenic | 0.9296 | pathogenic | -0.496 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
F/S | 0.8136 | likely_pathogenic | 0.7979 | pathogenic | -1.98 | Destabilizing | 0.839 | D | 0.553 | neutral | D | 0.526130785 | None | None | N |
F/T | 0.8769 | likely_pathogenic | 0.8628 | pathogenic | -1.78 | Destabilizing | 0.994 | D | 0.766 | deleterious | None | None | None | None | N |
F/V | 0.5077 | ambiguous | 0.4552 | ambiguous | -1.226 | Destabilizing | 0.35 | N | 0.487 | neutral | N | 0.501656415 | None | None | N |
F/W | 0.7323 | likely_pathogenic | 0.7026 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
F/Y | 0.3359 | likely_benign | 0.3039 | benign | -0.227 | Destabilizing | 0.994 | D | 0.623 | neutral | N | 0.519666172 | 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.