Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15525 | 46798;46799;46800 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| N2AB | 13884 | 41875;41876;41877 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| N2A | 12957 | 39094;39095;39096 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| N2B | 6460 | 19603;19604;19605 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| Novex-1 | 6585 | 19978;19979;19980 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| Novex-2 | 6652 | 20179;20180;20181 | chr2:178619744;178619743;178619742 | chr2:179484471;179484470;179484469 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs1313832139  |
None | 0.773 | N | 0.501 | 0.295 | 0.28798054836 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95084E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs1313832139 |
None | 0.773 | N | 0.501 | 0.295 | 0.28798054836 | gnomAD-4.0.0 | 2.03062E-06 | None | None | None | None | N | None | 1.74899E-05 | 0 | None | 0 | 1.14207E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1413462312 |
1.009 | 0.001 | N | 0.136 | 0.229 | 0.176091768786 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| H/Y | rs1413462312 |
1.009 | 0.001 | N | 0.136 | 0.229 | 0.176091768786 | gnomAD-4.0.0 | 1.5938E-06 | None | None | None | None | N | None | 0 | 2.28802E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.7422 | likely_pathogenic | 0.832 | pathogenic | -1.146 | Destabilizing | 0.388 | N | 0.531 | neutral | None | None | None | None | N |
| H/C | 0.2419 | likely_benign | 0.2862 | benign | -0.424 | Destabilizing | 0.981 | D | 0.559 | neutral | None | None | None | None | N |
| H/D | 0.8707 | likely_pathogenic | 0.9147 | pathogenic | -1.242 | Destabilizing | 0.492 | N | 0.503 | neutral | N | 0.511135039 | None | None | N |
| H/E | 0.8309 | likely_pathogenic | 0.8764 | pathogenic | -1.1 | Destabilizing | 0.563 | D | 0.48 | neutral | None | None | None | None | N |
| H/F | 0.278 | likely_benign | 0.3787 | ambiguous | 0.41 | Stabilizing | 0.002 | N | 0.213 | neutral | None | None | None | None | N |
| H/G | 0.8293 | likely_pathogenic | 0.8872 | pathogenic | -1.545 | Destabilizing | 0.563 | D | 0.519 | neutral | None | None | None | None | N |
| H/I | 0.4597 | ambiguous | 0.5311 | ambiguous | -0.002 | Destabilizing | 0.388 | N | 0.571 | neutral | None | None | None | None | N |
| H/K | 0.8046 | likely_pathogenic | 0.8572 | pathogenic | -0.896 | Destabilizing | 0.388 | N | 0.504 | neutral | None | None | None | None | N |
| H/L | 0.2228 | likely_benign | 0.2731 | benign | -0.002 | Destabilizing | 0.09 | N | 0.497 | neutral | N | 0.48865234 | None | None | N |
| H/M | 0.5974 | likely_pathogenic | 0.7126 | pathogenic | -0.176 | Destabilizing | 0.818 | D | 0.532 | neutral | None | None | None | None | N |
| H/N | 0.3487 | ambiguous | 0.4564 | ambiguous | -1.186 | Destabilizing | 0.492 | N | 0.511 | neutral | N | 0.486782165 | None | None | N |
| H/P | 0.8183 | likely_pathogenic | 0.8726 | pathogenic | -0.368 | Destabilizing | 0.912 | D | 0.556 | neutral | N | 0.486564184 | None | None | N |
| H/Q | 0.535 | ambiguous | 0.6444 | pathogenic | -0.81 | Destabilizing | 0.773 | D | 0.506 | neutral | N | 0.510971288 | None | None | N |
| H/R | 0.5486 | ambiguous | 0.6247 | pathogenic | -1.436 | Destabilizing | 0.773 | D | 0.501 | neutral | N | 0.510265694 | None | None | N |
| H/S | 0.6459 | likely_pathogenic | 0.7367 | pathogenic | -1.181 | Destabilizing | 0.388 | N | 0.495 | neutral | None | None | None | None | N |
| H/T | 0.6048 | likely_pathogenic | 0.7323 | pathogenic | -0.933 | Destabilizing | 0.388 | N | 0.531 | neutral | None | None | None | None | N |
| H/V | 0.3914 | ambiguous | 0.4725 | ambiguous | -0.368 | Destabilizing | 0.388 | N | 0.553 | neutral | None | None | None | None | N |
| H/W | 0.4486 | ambiguous | 0.5572 | ambiguous | 0.672 | Stabilizing | 0.818 | D | 0.527 | neutral | None | None | None | None | N |
| H/Y | 0.0918 | likely_benign | 0.1079 | benign | 0.667 | Stabilizing | 0.001 | N | 0.136 | neutral | N | 0.374959954 | 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.