Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 5764 | 17515;17516;17517 | chr2:178731476;178731475;178731474 | chr2:179596203;179596202;179596201 |
N2AB | 5447 | 16564;16565;16566 | chr2:178731476;178731475;178731474 | chr2:179596203;179596202;179596201 |
N2A | 4520 | 13783;13784;13785 | chr2:178731476;178731475;178731474 | chr2:179596203;179596202;179596201 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/Q | None | None | 0.794 | N | 0.579 | 0.299 | 0.705127555899 | gnomAD-4.0.0 | 1.59152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L/A | 0.3219 | likely_benign | 0.3067 | benign | -2.465 | Highly Destabilizing | 0.129 | N | 0.475 | neutral | None | None | None | None | N |
L/C | 0.4587 | ambiguous | 0.4225 | ambiguous | -1.845 | Destabilizing | 0.983 | D | 0.549 | neutral | None | None | None | None | N |
L/D | 0.7516 | likely_pathogenic | 0.7123 | pathogenic | -2.709 | Highly Destabilizing | 0.716 | D | 0.619 | neutral | None | None | None | None | N |
L/E | 0.313 | likely_benign | 0.2829 | benign | -2.555 | Highly Destabilizing | 0.418 | N | 0.624 | neutral | None | None | None | None | N |
L/F | 0.0961 | likely_benign | 0.0864 | benign | -1.541 | Destabilizing | 0.005 | N | 0.343 | neutral | None | None | None | None | N |
L/G | 0.5718 | likely_pathogenic | 0.5564 | ambiguous | -2.945 | Highly Destabilizing | 0.002 | N | 0.481 | neutral | None | None | None | None | N |
L/H | 0.1712 | likely_benign | 0.1638 | benign | -2.316 | Highly Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | N |
L/I | 0.1064 | likely_benign | 0.0988 | benign | -1.112 | Destabilizing | 0.101 | N | 0.45 | neutral | N | 0.493150709 | None | None | N |
L/K | 0.241 | likely_benign | 0.211 | benign | -1.845 | Destabilizing | 0.418 | N | 0.558 | neutral | None | None | None | None | N |
L/M | 0.0827 | likely_benign | 0.0827 | benign | -1.07 | Destabilizing | 0.027 | N | 0.363 | neutral | None | None | None | None | N |
L/N | 0.3754 | ambiguous | 0.3358 | benign | -2.019 | Highly Destabilizing | 0.716 | D | 0.629 | neutral | None | None | None | None | N |
L/P | 0.9794 | likely_pathogenic | 0.9761 | pathogenic | -1.541 | Destabilizing | 0.794 | D | 0.623 | neutral | N | 0.469836804 | None | None | N |
L/Q | 0.0936 | likely_benign | 0.0948 | benign | -2.008 | Highly Destabilizing | 0.794 | D | 0.579 | neutral | N | 0.479933482 | None | None | N |
L/R | 0.1874 | likely_benign | 0.1725 | benign | -1.422 | Destabilizing | 0.794 | D | 0.576 | neutral | N | 0.485512661 | None | None | N |
L/S | 0.2657 | likely_benign | 0.2444 | benign | -2.697 | Highly Destabilizing | 0.027 | N | 0.507 | neutral | None | None | None | None | N |
L/T | 0.2284 | likely_benign | 0.2087 | benign | -2.412 | Highly Destabilizing | 0.264 | N | 0.509 | neutral | None | None | None | None | N |
L/V | 0.1075 | likely_benign | 0.1073 | benign | -1.541 | Destabilizing | 0.007 | N | 0.266 | neutral | N | 0.51173647 | None | None | N |
L/W | 0.1517 | likely_benign | 0.1424 | benign | -1.863 | Destabilizing | 0.005 | N | 0.49 | neutral | None | None | None | None | N |
L/Y | 0.2338 | likely_benign | 0.2131 | benign | -1.605 | Destabilizing | 0.557 | D | 0.563 | 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.