Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22700 | 68323;68324;68325 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| N2AB | 21059 | 63400;63401;63402 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| N2A | 20132 | 60619;60620;60621 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| N2B | 13635 | 41128;41129;41130 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| Novex-1 | 13760 | 41503;41504;41505 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| Novex-2 | 13827 | 41704;41705;41706 | chr2:178578932;178578931;178578930 | chr2:179443659;179443658;179443657 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1401253287  |
0.174 | 0.999 | N | 0.572 | 0.385 | 0.290590437066 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| K/E | rs1401253287 |
0.174 | 0.999 | N | 0.572 | 0.385 | 0.290590437066 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| K/E | rs1401253287 |
0.174 | 0.999 | N | 0.572 | 0.385 | 0.290590437066 | gnomAD-4.0.0 | 4.33928E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93473E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6974 | likely_pathogenic | 0.5667 | pathogenic | -0.007 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| K/C | 0.8705 | likely_pathogenic | 0.8319 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/D | 0.788 | likely_pathogenic | 0.6847 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/E | 0.5453 | ambiguous | 0.3736 | ambiguous | -0.038 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.45487004 | None | None | N |
| K/F | 0.9608 | likely_pathogenic | 0.9283 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/G | 0.648 | likely_pathogenic | 0.5308 | ambiguous | -0.225 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| K/H | 0.5221 | ambiguous | 0.4087 | ambiguous | -0.353 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| K/I | 0.8458 | likely_pathogenic | 0.7426 | pathogenic | 0.497 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.482093207 | None | None | N |
| K/L | 0.7349 | likely_pathogenic | 0.6306 | pathogenic | 0.497 | Stabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| K/M | 0.5765 | likely_pathogenic | 0.4386 | ambiguous | 0.006 | Stabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| K/N | 0.6788 | likely_pathogenic | 0.507 | ambiguous | -0.076 | Destabilizing | 1.0 | D | 0.666 | neutral | N | 0.482483503 | None | None | N |
| K/P | 0.9321 | likely_pathogenic | 0.9075 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3041 | likely_benign | 0.2043 | benign | -0.142 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.474978741 | None | None | N |
| K/R | 0.1005 | likely_benign | 0.0944 | benign | -0.118 | Destabilizing | 0.999 | D | 0.532 | neutral | N | 0.457817132 | None | None | N |
| K/S | 0.7422 | likely_pathogenic | 0.5877 | pathogenic | -0.491 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| K/T | 0.4821 | ambiguous | 0.3282 | benign | -0.296 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.439631229 | None | None | N |
| K/V | 0.7702 | likely_pathogenic | 0.6589 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| K/W | 0.9441 | likely_pathogenic | 0.9184 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8693 | likely_pathogenic | 0.8109 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.645 | 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.