Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 7626 | 23101;23102;23103 | chr2:178721143;178721142;178721141 | chr2:179585870;179585869;179585868 |
N2AB | 7309 | 22150;22151;22152 | chr2:178721143;178721142;178721141 | chr2:179585870;179585869;179585868 |
N2A | 6382 | 19369;19370;19371 | chr2:178721143;178721142;178721141 | chr2:179585870;179585869;179585868 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/L | rs1560677297 | None | None | N | 0.185 | 0.098 | 0.207176502487 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
I/L | rs1560677297 | None | None | N | 0.185 | 0.098 | 0.207176502487 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/L | rs1560677297 | None | None | N | 0.185 | 0.098 | 0.207176502487 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/V | None | None | None | N | 0.158 | 0.07 | 0.19670166235 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.4437 | ambiguous | 0.3493 | ambiguous | -2.074 | Highly Destabilizing | 0.002 | N | 0.452 | neutral | None | None | None | None | N |
I/C | 0.7018 | likely_pathogenic | 0.6473 | pathogenic | -1.73 | Destabilizing | None | N | 0.448 | neutral | None | None | None | None | N |
I/D | 0.9167 | likely_pathogenic | 0.8748 | pathogenic | -1.222 | Destabilizing | 0.044 | N | 0.642 | neutral | None | None | None | None | N |
I/E | 0.84 | likely_pathogenic | 0.7928 | pathogenic | -1.154 | Destabilizing | 0.044 | N | 0.637 | neutral | None | None | None | None | N |
I/F | 0.1584 | likely_benign | 0.1542 | benign | -1.371 | Destabilizing | 0.033 | N | 0.604 | neutral | N | 0.456979265 | None | None | N |
I/G | 0.8045 | likely_pathogenic | 0.7204 | pathogenic | -2.476 | Highly Destabilizing | 0.009 | N | 0.576 | neutral | None | None | None | None | N |
I/H | 0.7044 | likely_pathogenic | 0.6424 | pathogenic | -1.519 | Destabilizing | 0.497 | N | 0.695 | prob.neutral | None | None | None | None | N |
I/K | 0.7549 | likely_pathogenic | 0.6865 | pathogenic | -1.49 | Destabilizing | 0.018 | N | 0.628 | neutral | None | None | None | None | N |
I/L | 0.1159 | likely_benign | 0.1043 | benign | -1.007 | Destabilizing | None | N | 0.185 | neutral | N | 0.386249743 | None | None | N |
I/M | 0.1378 | likely_benign | 0.1229 | benign | -0.993 | Destabilizing | 0.108 | N | 0.597 | neutral | N | 0.502212909 | None | None | N |
I/N | 0.5994 | likely_pathogenic | 0.5062 | ambiguous | -1.444 | Destabilizing | 0.033 | N | 0.685 | prob.neutral | N | 0.467924247 | None | None | N |
I/P | 0.9263 | likely_pathogenic | 0.8866 | pathogenic | -1.333 | Destabilizing | None | N | 0.519 | neutral | None | None | None | None | N |
I/Q | 0.7107 | likely_pathogenic | 0.6413 | pathogenic | -1.528 | Destabilizing | 0.085 | N | 0.728 | prob.delet. | None | None | None | None | N |
I/R | 0.6542 | likely_pathogenic | 0.5649 | pathogenic | -0.933 | Destabilizing | 0.044 | N | 0.713 | prob.delet. | None | None | None | None | N |
I/S | 0.4723 | ambiguous | 0.3636 | ambiguous | -2.229 | Highly Destabilizing | None | N | 0.422 | neutral | N | 0.502386268 | None | None | N |
I/T | 0.3422 | ambiguous | 0.2653 | benign | -2.016 | Highly Destabilizing | None | N | 0.38 | neutral | N | 0.433083685 | None | None | N |
I/V | 0.0717 | likely_benign | 0.0684 | benign | -1.333 | Destabilizing | None | N | 0.158 | neutral | N | 0.374029808 | None | None | N |
I/W | 0.8238 | likely_pathogenic | 0.7914 | pathogenic | -1.387 | Destabilizing | 0.788 | D | 0.683 | prob.neutral | None | None | None | None | N |
I/Y | 0.5979 | likely_pathogenic | 0.5493 | ambiguous | -1.197 | Destabilizing | 0.245 | N | 0.699 | prob.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.