Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18941 | 57046;57047;57048 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| N2AB | 17300 | 52123;52124;52125 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| N2A | 16373 | 49342;49343;49344 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| N2B | 9876 | 29851;29852;29853 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| Novex-1 | 10001 | 30226;30227;30228 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| Novex-2 | 10068 | 30427;30428;30429 | chr2:178598889;178598888;178598887 | chr2:179463616;179463615;179463614 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs754264431  |
0.095 | 0.004 | N | 0.26 | 0.06 | 0.270001397563 | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.63E-05 | 0 |
| A/V | rs754264431 |
0.095 | 0.004 | N | 0.26 | 0.06 | 0.270001397563 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| A/V | rs754264431 |
0.095 | 0.004 | N | 0.26 | 0.06 | 0.270001397563 | gnomAD-4.0.0 | 2.85171E-05 | None | None | None | None | N | None | 0 | 1.66867E-05 | None | 0 | 0 | None | 1.56265E-05 | 0 | 3.73032E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5407 | ambiguous | 0.4617 | ambiguous | -0.731 | Destabilizing | 0.977 | D | 0.615 | neutral | None | None | None | None | N |
| A/D | 0.6048 | likely_pathogenic | 0.4965 | ambiguous | -0.859 | Destabilizing | 0.896 | D | 0.671 | neutral | N | 0.407924242 | None | None | N |
| A/E | 0.4428 | ambiguous | 0.3586 | ambiguous | -0.927 | Destabilizing | 0.617 | D | 0.655 | neutral | None | None | None | None | N |
| A/F | 0.6025 | likely_pathogenic | 0.4394 | ambiguous | -0.878 | Destabilizing | 0.85 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/G | 0.2223 | likely_benign | 0.1865 | benign | -0.859 | Destabilizing | 0.549 | D | 0.568 | neutral | N | 0.459641142 | None | None | N |
| A/H | 0.6756 | likely_pathogenic | 0.5738 | pathogenic | -1.024 | Destabilizing | 0.992 | D | 0.616 | neutral | None | None | None | None | N |
| A/I | 0.3161 | likely_benign | 0.2022 | benign | -0.282 | Destabilizing | 0.005 | N | 0.368 | neutral | None | None | None | None | N |
| A/K | 0.6677 | likely_pathogenic | 0.5742 | pathogenic | -1.08 | Destabilizing | 0.617 | D | 0.665 | neutral | None | None | None | None | N |
| A/L | 0.2798 | likely_benign | 0.1843 | benign | -0.282 | Destabilizing | 0.25 | N | 0.529 | neutral | None | None | None | None | N |
| A/M | 0.3233 | likely_benign | 0.2239 | benign | -0.32 | Destabilizing | 0.85 | D | 0.647 | neutral | None | None | None | None | N |
| A/N | 0.4041 | ambiguous | 0.2948 | benign | -0.691 | Destabilizing | 0.92 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/P | 0.1056 | likely_benign | 0.124 | benign | -0.367 | Destabilizing | 0.002 | N | 0.357 | neutral | N | 0.415639649 | None | None | N |
| A/Q | 0.4548 | ambiguous | 0.384 | ambiguous | -0.875 | Destabilizing | 0.92 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/R | 0.6337 | likely_pathogenic | 0.5783 | pathogenic | -0.701 | Destabilizing | 0.92 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/S | 0.1455 | likely_benign | 0.1245 | benign | -0.966 | Destabilizing | 0.549 | D | 0.563 | neutral | N | 0.440439306 | None | None | N |
| A/T | 0.1383 | likely_benign | 0.1044 | benign | -0.942 | Destabilizing | 0.549 | D | 0.572 | neutral | N | 0.45223238 | None | None | N |
| A/V | 0.1617 | likely_benign | 0.1155 | benign | -0.367 | Destabilizing | 0.004 | N | 0.26 | neutral | N | 0.440089802 | None | None | N |
| A/W | 0.884 | likely_pathogenic | 0.7982 | pathogenic | -1.164 | Destabilizing | 0.992 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/Y | 0.658 | likely_pathogenic | 0.5214 | ambiguous | -0.781 | Destabilizing | 0.92 | D | 0.677 | 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.