Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5783 | 17572;17573;17574 | chr2:178731419;178731418;178731417 | chr2:179596146;179596145;179596144 |
N2AB | 5466 | 16621;16622;16623 | chr2:178731419;178731418;178731417 | chr2:179596146;179596145;179596144 |
N2A | 4539 | 13840;13841;13842 | chr2:178731419;178731418;178731417 | chr2:179596146;179596145;179596144 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/I | None | None | 0.998 | N | 0.775 | 0.564 | 0.671502058982 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 0 | 0 | 0 |
N/S | None | None | 0.961 | D | 0.553 | 0.26 | 0.330589388543 | gnomAD-4.0.0 | 2.05261E-06 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.3977 | ambiguous | 0.3606 | ambiguous | -0.816 | Destabilizing | 0.97 | D | 0.673 | neutral | None | None | None | None | N |
N/C | 0.4891 | ambiguous | 0.451 | ambiguous | 0.008 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
N/D | 0.14 | likely_benign | 0.1326 | benign | -0.075 | Destabilizing | 0.961 | D | 0.581 | neutral | N | 0.516780583 | None | None | N |
N/E | 0.5055 | ambiguous | 0.4589 | ambiguous | 0.036 | Stabilizing | 0.942 | D | 0.563 | neutral | None | None | None | None | N |
N/F | 0.7686 | likely_pathogenic | 0.7416 | pathogenic | -0.69 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
N/G | 0.2835 | likely_benign | 0.2589 | benign | -1.148 | Destabilizing | 0.092 | N | 0.258 | neutral | None | None | None | None | N |
N/H | 0.1445 | likely_benign | 0.1351 | benign | -0.78 | Destabilizing | 0.994 | D | 0.634 | neutral | N | 0.489455446 | None | None | N |
N/I | 0.6599 | likely_pathogenic | 0.6226 | pathogenic | 0.025 | Stabilizing | 0.998 | D | 0.775 | deleterious | N | 0.493494371 | None | None | N |
N/K | 0.4199 | ambiguous | 0.3651 | ambiguous | 0.028 | Stabilizing | 0.925 | D | 0.589 | neutral | N | 0.490541402 | None | None | N |
N/L | 0.5059 | ambiguous | 0.4735 | ambiguous | 0.025 | Stabilizing | 0.991 | D | 0.715 | prob.delet. | None | None | None | None | N |
N/M | 0.5705 | likely_pathogenic | 0.5239 | ambiguous | 0.266 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
N/P | 0.9081 | likely_pathogenic | 0.8938 | pathogenic | -0.226 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
N/Q | 0.4027 | ambiguous | 0.362 | ambiguous | -0.531 | Destabilizing | 0.746 | D | 0.243 | neutral | None | None | None | None | N |
N/R | 0.4194 | ambiguous | 0.3632 | ambiguous | -0.04 | Destabilizing | 0.991 | D | 0.617 | neutral | None | None | None | None | N |
N/S | 0.1072 | likely_benign | 0.1055 | benign | -0.714 | Destabilizing | 0.961 | D | 0.553 | neutral | D | 0.532038037 | None | None | N |
N/T | 0.272 | likely_benign | 0.2468 | benign | -0.393 | Destabilizing | 0.98 | D | 0.597 | neutral | D | 0.524458704 | None | None | N |
N/V | 0.6256 | likely_pathogenic | 0.5874 | pathogenic | -0.226 | Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
N/W | 0.8912 | likely_pathogenic | 0.8651 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
N/Y | 0.2961 | likely_benign | 0.2706 | benign | -0.229 | Destabilizing | 0.998 | D | 0.762 | deleterious | D | 0.533598262 | 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.