Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20738 | 62437;62438;62439 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| N2AB | 19097 | 57514;57515;57516 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| N2A | 18170 | 54733;54734;54735 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| N2B | 11673 | 35242;35243;35244 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| Novex-1 | 11798 | 35617;35618;35619 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| Novex-2 | 11865 | 35818;35819;35820 | chr2:178589513;178589512;178589511 | chr2:179454240;179454239;179454238 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1388003753  |
-0.556 | 0.934 | N | 0.486 | 0.143 | 0.431379191433 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| I/M | rs1388003753 |
-0.556 | 0.934 | N | 0.486 | 0.143 | 0.431379191433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs1388003753 |
-0.556 | 0.934 | N | 0.486 | 0.143 | 0.431379191433 | gnomAD-4.0.0 | 6.81869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47719E-06 | 0 | 1.60159E-05 |
| I/T | rs1455500759 |
None | 0.022 | N | 0.189 | 0.213 | 0.428630128466 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1455500759 |
None | 0.022 | N | 0.189 | 0.213 | 0.428630128466 | gnomAD-4.0.0 | 6.57938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4624 | ambiguous | 0.4481 | ambiguous | -1.938 | Destabilizing | 0.688 | D | 0.411 | neutral | None | None | None | None | N |
| I/C | 0.7228 | likely_pathogenic | 0.7142 | pathogenic | -1.056 | Destabilizing | 0.998 | D | 0.5 | neutral | None | None | None | None | N |
| I/D | 0.7838 | likely_pathogenic | 0.754 | pathogenic | -1.593 | Destabilizing | 0.974 | D | 0.594 | neutral | None | None | None | None | N |
| I/E | 0.6385 | likely_pathogenic | 0.6028 | pathogenic | -1.473 | Destabilizing | 0.974 | D | 0.594 | neutral | None | None | None | None | N |
| I/F | 0.2748 | likely_benign | 0.2964 | benign | -1.128 | Destabilizing | 0.934 | D | 0.468 | neutral | N | 0.482174072 | None | None | N |
| I/G | 0.7512 | likely_pathogenic | 0.7615 | pathogenic | -2.375 | Highly Destabilizing | 0.915 | D | 0.587 | neutral | None | None | None | None | N |
| I/H | 0.595 | likely_pathogenic | 0.5729 | pathogenic | -1.624 | Destabilizing | 0.998 | D | 0.6 | neutral | None | None | None | None | N |
| I/K | 0.4647 | ambiguous | 0.4386 | ambiguous | -1.381 | Destabilizing | 0.974 | D | 0.595 | neutral | None | None | None | None | N |
| I/L | 0.1594 | likely_benign | 0.1689 | benign | -0.745 | Destabilizing | 0.005 | N | 0.084 | neutral | N | 0.472322438 | None | None | N |
| I/M | 0.1363 | likely_benign | 0.1391 | benign | -0.558 | Destabilizing | 0.934 | D | 0.486 | neutral | N | 0.477056254 | None | None | N |
| I/N | 0.3494 | ambiguous | 0.3053 | benign | -1.421 | Destabilizing | 0.966 | D | 0.596 | neutral | N | 0.464374958 | None | None | N |
| I/P | 0.7345 | likely_pathogenic | 0.7582 | pathogenic | -1.116 | Destabilizing | 0.991 | D | 0.613 | neutral | None | None | None | None | N |
| I/Q | 0.5238 | ambiguous | 0.496 | ambiguous | -1.44 | Destabilizing | 0.991 | D | 0.631 | neutral | None | None | None | None | N |
| I/R | 0.4112 | ambiguous | 0.3895 | ambiguous | -0.926 | Destabilizing | 0.974 | D | 0.613 | neutral | None | None | None | None | N |
| I/S | 0.3975 | ambiguous | 0.3646 | ambiguous | -2.102 | Highly Destabilizing | 0.669 | D | 0.517 | neutral | N | 0.427627511 | None | None | N |
| I/T | 0.2773 | likely_benign | 0.2323 | benign | -1.856 | Destabilizing | 0.022 | N | 0.189 | neutral | N | 0.420546823 | None | None | N |
| I/V | 0.1009 | likely_benign | 0.1003 | benign | -1.116 | Destabilizing | 0.267 | N | 0.206 | neutral | N | 0.463145594 | None | None | N |
| I/W | 0.7854 | likely_pathogenic | 0.8175 | pathogenic | -1.378 | Destabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| I/Y | 0.5719 | likely_pathogenic | 0.5828 | pathogenic | -1.09 | Destabilizing | 0.991 | D | 0.525 | 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.