Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22598 | 68017;68018;68019 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| N2AB | 20957 | 63094;63095;63096 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| N2A | 20030 | 60313;60314;60315 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| N2B | 13533 | 40822;40823;40824 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| Novex-1 | 13658 | 41197;41198;41199 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| Novex-2 | 13725 | 41398;41399;41400 | chr2:178579238;178579237;178579236 | chr2:179443965;179443964;179443963 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs960274505  |
-0.27 | 0.655 | N | 0.459 | 0.189 | 0.273503213844 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| S/R | rs960274505 |
-0.27 | 0.655 | N | 0.459 | 0.189 | 0.273503213844 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| S/R | rs960274505 |
-0.27 | 0.655 | N | 0.459 | 0.189 | 0.273503213844 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| S/T | None | None | 0.007 | N | 0.197 | 0.064 | 0.250579442822 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0767 | likely_benign | 0.0755 | benign | -0.8 | Destabilizing | 0.001 | N | 0.19 | neutral | None | None | None | None | N |
| S/C | 0.1144 | likely_benign | 0.1193 | benign | -0.719 | Destabilizing | 0.002 | N | 0.229 | neutral | N | 0.48850069 | None | None | N |
| S/D | 0.4952 | ambiguous | 0.4544 | ambiguous | -0.85 | Destabilizing | 0.264 | N | 0.281 | neutral | None | None | None | None | N |
| S/E | 0.5086 | ambiguous | 0.4888 | ambiguous | -0.777 | Destabilizing | 0.418 | N | 0.277 | neutral | None | None | None | None | N |
| S/F | 0.1831 | likely_benign | 0.1959 | benign | -0.808 | Destabilizing | 0.716 | D | 0.465 | neutral | None | None | None | None | N |
| S/G | 0.1131 | likely_benign | 0.1102 | benign | -1.116 | Destabilizing | 0.101 | N | 0.308 | neutral | D | 0.534310338 | None | None | N |
| S/H | 0.2841 | likely_benign | 0.2706 | benign | -1.58 | Destabilizing | 0.716 | D | 0.432 | neutral | None | None | None | None | N |
| S/I | 0.1348 | likely_benign | 0.1406 | benign | -0.046 | Destabilizing | 0.002 | N | 0.3 | neutral | D | 0.529461879 | None | None | N |
| S/K | 0.5322 | ambiguous | 0.487 | ambiguous | -0.716 | Destabilizing | 0.264 | N | 0.281 | neutral | None | None | None | None | N |
| S/L | 0.0966 | likely_benign | 0.1 | benign | -0.046 | Destabilizing | 0.049 | N | 0.394 | neutral | None | None | None | None | N |
| S/M | 0.1462 | likely_benign | 0.1582 | benign | 0.088 | Stabilizing | 0.716 | D | 0.436 | neutral | None | None | None | None | N |
| S/N | 0.1409 | likely_benign | 0.1338 | benign | -0.964 | Destabilizing | 0.002 | N | 0.259 | neutral | N | 0.487324468 | None | None | N |
| S/P | 0.9133 | likely_pathogenic | 0.886 | pathogenic | -0.262 | Destabilizing | 0.836 | D | 0.456 | neutral | None | None | None | None | N |
| S/Q | 0.4008 | ambiguous | 0.3843 | ambiguous | -0.993 | Destabilizing | 0.716 | D | 0.375 | neutral | None | None | None | None | N |
| S/R | 0.4393 | ambiguous | 0.3953 | ambiguous | -0.771 | Destabilizing | 0.655 | D | 0.459 | neutral | N | 0.475838037 | None | None | N |
| S/T | 0.0679 | likely_benign | 0.0704 | benign | -0.84 | Destabilizing | 0.007 | N | 0.197 | neutral | N | 0.483785517 | None | None | N |
| S/V | 0.1447 | likely_benign | 0.156 | benign | -0.262 | Destabilizing | 0.049 | N | 0.419 | neutral | None | None | None | None | N |
| S/W | 0.365 | ambiguous | 0.3675 | ambiguous | -0.867 | Destabilizing | 0.983 | D | 0.495 | neutral | None | None | None | None | N |
| S/Y | 0.188 | likely_benign | 0.1943 | benign | -0.54 | Destabilizing | 0.836 | D | 0.464 | 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.