Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 25751 | 77476;77477;77478 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
N2AB | 24110 | 72553;72554;72555 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
N2A | 23183 | 69772;69773;69774 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
N2B | 16686 | 50281;50282;50283 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
Novex-1 | 16811 | 50656;50657;50658 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
Novex-2 | 16878 | 50857;50858;50859 | chr2:178568881;178568880;178568879 | chr2:179433608;179433607;179433606 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/I | rs1707037065 | None | 0.305 | N | 0.497 | 0.184 | 0.506189230309 | gnomAD-4.0.0 | 1.59276E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77562E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 0.3245 | likely_benign | 0.3165 | benign | -1.472 | Destabilizing | 0.369 | N | 0.407 | neutral | N | 0.479153464 | None | None | I |
V/C | 0.7602 | likely_pathogenic | 0.748 | pathogenic | -0.882 | Destabilizing | 0.997 | D | 0.551 | neutral | None | None | None | None | I |
V/D | 0.8017 | likely_pathogenic | 0.7889 | pathogenic | -1.47 | Destabilizing | 0.97 | D | 0.566 | neutral | None | None | None | None | I |
V/E | 0.6451 | likely_pathogenic | 0.6332 | pathogenic | -1.334 | Destabilizing | 0.798 | D | 0.545 | neutral | N | 0.507448709 | None | None | I |
V/F | 0.4534 | ambiguous | 0.4128 | ambiguous | -0.823 | Destabilizing | 0.98 | D | 0.593 | neutral | None | None | None | None | I |
V/G | 0.321 | likely_benign | 0.3203 | benign | -1.925 | Destabilizing | 0.029 | N | 0.441 | neutral | N | 0.517190723 | None | None | I |
V/H | 0.8868 | likely_pathogenic | 0.8782 | pathogenic | -1.58 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | I |
V/I | 0.141 | likely_benign | 0.1379 | benign | -0.268 | Destabilizing | 0.305 | N | 0.497 | neutral | N | 0.517057437 | None | None | I |
V/K | 0.8291 | likely_pathogenic | 0.8168 | pathogenic | -1.178 | Destabilizing | 0.92 | D | 0.543 | neutral | None | None | None | None | I |
V/L | 0.4797 | ambiguous | 0.4815 | ambiguous | -0.268 | Destabilizing | 0.154 | N | 0.503 | neutral | N | 0.476635477 | None | None | I |
V/M | 0.3492 | ambiguous | 0.3412 | ambiguous | -0.233 | Destabilizing | 0.991 | D | 0.553 | neutral | None | None | None | None | I |
V/N | 0.603 | likely_pathogenic | 0.5928 | pathogenic | -1.245 | Destabilizing | 0.629 | D | 0.572 | neutral | None | None | None | None | I |
V/P | 0.9631 | likely_pathogenic | 0.9578 | pathogenic | -0.637 | Destabilizing | 0.775 | D | 0.58 | neutral | None | None | None | None | I |
V/Q | 0.6676 | likely_pathogenic | 0.6505 | pathogenic | -1.197 | Destabilizing | 0.89 | D | 0.612 | neutral | None | None | None | None | I |
V/R | 0.8072 | likely_pathogenic | 0.8038 | pathogenic | -0.935 | Destabilizing | 0.961 | D | 0.639 | neutral | None | None | None | None | I |
V/S | 0.3406 | ambiguous | 0.3367 | benign | -1.858 | Destabilizing | 0.048 | N | 0.398 | neutral | None | None | None | None | I |
V/T | 0.2647 | likely_benign | 0.2736 | benign | -1.59 | Destabilizing | 0.02 | N | 0.281 | neutral | None | None | None | None | I |
V/W | 0.9746 | likely_pathogenic | 0.9709 | pathogenic | -1.242 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | I |
V/Y | 0.8799 | likely_pathogenic | 0.8601 | pathogenic | -0.829 | Destabilizing | 0.993 | D | 0.583 | neutral | None | None | None | None | I |
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.