Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6530 | 19813;19814;19815 | chr2:178728236;178728235;178728234 | chr2:179592963;179592962;179592961 |
| N2AB | 6213 | 18862;18863;18864 | chr2:178728236;178728235;178728234 | chr2:179592963;179592962;179592961 |
| N2A | 5286 | 16081;16082;16083 | chr2:178728236;178728235;178728234 | chr2:179592963;179592962;179592961 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1447296765  |
-1.086 | 0.022 | N | 0.097 | 0.084 | 0.506972231042 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11645E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1447296765 |
-1.086 | 0.022 | N | 0.097 | 0.084 | 0.506972231042 | gnomAD-4.0.0 | 4.7781E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.32824E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1215350767 |
-0.237 | 0.934 | N | 0.433 | 0.198 | 0.555395099047 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/M | rs1215350767 |
-0.237 | 0.934 | N | 0.433 | 0.198 | 0.555395099047 | 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 |
| V/M | rs1215350767 |
-0.237 | 0.934 | N | 0.433 | 0.198 | 0.555395099047 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1181 | likely_benign | 0.123 | benign | -1.022 | Destabilizing | 0.022 | N | 0.097 | neutral | N | 0.460503226 | None | None | N |
| V/C | 0.5927 | likely_pathogenic | 0.6388 | pathogenic | -0.603 | Destabilizing | 0.991 | D | 0.413 | neutral | None | None | None | None | N |
| V/D | 0.1513 | likely_benign | 0.1685 | benign | -0.916 | Destabilizing | 0.974 | D | 0.531 | neutral | None | None | None | None | N |
| V/E | 0.1539 | likely_benign | 0.1656 | benign | -0.993 | Destabilizing | 0.966 | D | 0.489 | neutral | N | 0.414904222 | None | None | N |
| V/F | 0.0836 | likely_benign | 0.0862 | benign | -1.023 | Destabilizing | 0.949 | D | 0.431 | neutral | None | None | None | None | N |
| V/G | 0.1335 | likely_benign | 0.1462 | benign | -1.247 | Destabilizing | 0.801 | D | 0.469 | neutral | N | 0.488113901 | None | None | N |
| V/H | 0.27 | likely_benign | 0.2907 | benign | -0.843 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | N |
| V/I | 0.0747 | likely_benign | 0.0732 | benign | -0.543 | Destabilizing | 0.029 | N | 0.096 | neutral | None | None | None | None | N |
| V/K | 0.2021 | likely_benign | 0.2302 | benign | -0.868 | Destabilizing | 0.915 | D | 0.477 | neutral | None | None | None | None | N |
| V/L | 0.0997 | likely_benign | 0.0995 | benign | -0.543 | Destabilizing | 0.002 | N | 0.077 | neutral | N | 0.399782841 | None | None | N |
| V/M | 0.1197 | likely_benign | 0.1262 | benign | -0.34 | Destabilizing | 0.934 | D | 0.433 | neutral | N | 0.469874857 | None | None | N |
| V/N | 0.1381 | likely_benign | 0.148 | benign | -0.511 | Destabilizing | 0.991 | D | 0.547 | neutral | None | None | None | None | N |
| V/P | 0.5176 | ambiguous | 0.544 | ambiguous | -0.666 | Destabilizing | 0.974 | D | 0.511 | neutral | None | None | None | None | N |
| V/Q | 0.1753 | likely_benign | 0.1876 | benign | -0.768 | Destabilizing | 0.991 | D | 0.519 | neutral | None | None | None | None | N |
| V/R | 0.1712 | likely_benign | 0.1856 | benign | -0.285 | Destabilizing | 0.974 | D | 0.537 | neutral | None | None | None | None | N |
| V/S | 0.1147 | likely_benign | 0.1208 | benign | -0.906 | Destabilizing | 0.728 | D | 0.461 | neutral | None | None | None | None | N |
| V/T | 0.1362 | likely_benign | 0.1391 | benign | -0.883 | Destabilizing | 0.842 | D | 0.304 | neutral | None | None | None | None | N |
| V/W | 0.5317 | ambiguous | 0.5593 | ambiguous | -1.143 | Destabilizing | 0.998 | D | 0.54 | neutral | None | None | None | None | N |
| V/Y | 0.3 | likely_benign | 0.3246 | benign | -0.864 | Destabilizing | 0.974 | D | 0.445 | 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.