Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29133 | 87622;87623;87624 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| N2AB | 27492 | 82699;82700;82701 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| N2A | 26565 | 79918;79919;79920 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| N2B | 20068 | 60427;60428;60429 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| Novex-1 | 20193 | 60802;60803;60804 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| Novex-2 | 20260 | 61003;61004;61005 | chr2:178557957;178557956;178557955 | chr2:179422684;179422683;179422682 |
| 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/I | rs1396011615  |
-0.146 | None | N | 0.123 | 0.074 | 0.12205267543 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs1396011615 |
-0.146 | None | N | 0.123 | 0.074 | 0.12205267543 | gnomAD-4.0.0 | 6.84463E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 | 0.2249 | likely_benign | 0.2208 | benign | -1.375 | Destabilizing | 0.052 | N | 0.403 | neutral | N | 0.491494483 | None | None | N |
| V/C | 0.7142 | likely_pathogenic | 0.708 | pathogenic | -0.871 | Destabilizing | 0.935 | D | 0.379 | neutral | None | None | None | None | N |
| V/D | 0.606 | likely_pathogenic | 0.5902 | pathogenic | -0.998 | Destabilizing | 0.484 | N | 0.457 | neutral | N | 0.491494483 | None | None | N |
| V/E | 0.4639 | ambiguous | 0.4465 | ambiguous | -0.932 | Destabilizing | 0.555 | D | 0.421 | neutral | None | None | None | None | N |
| V/F | 0.1994 | likely_benign | 0.2066 | benign | -0.868 | Destabilizing | 0.317 | N | 0.363 | neutral | N | 0.491667842 | None | None | N |
| V/G | 0.4711 | ambiguous | 0.4603 | ambiguous | -1.76 | Destabilizing | 0.484 | N | 0.425 | neutral | N | 0.510773677 | None | None | N |
| V/H | 0.5551 | ambiguous | 0.543 | ambiguous | -1.271 | Destabilizing | 0.935 | D | 0.451 | neutral | None | None | None | None | N |
| V/I | 0.0608 | likely_benign | 0.0658 | benign | -0.398 | Destabilizing | None | N | 0.123 | neutral | N | 0.402643348 | None | None | N |
| V/K | 0.4254 | ambiguous | 0.4246 | ambiguous | -1.088 | Destabilizing | 0.555 | D | 0.405 | neutral | None | None | None | None | N |
| V/L | 0.1442 | likely_benign | 0.1507 | benign | -0.398 | Destabilizing | None | N | 0.111 | neutral | N | 0.49080105 | None | None | N |
| V/M | 0.1113 | likely_benign | 0.1123 | benign | -0.338 | Destabilizing | 0.016 | N | 0.24 | neutral | None | None | None | None | N |
| V/N | 0.3094 | likely_benign | 0.3062 | benign | -1.005 | Destabilizing | 0.791 | D | 0.447 | neutral | None | None | None | None | N |
| V/P | 0.9377 | likely_pathogenic | 0.9397 | pathogenic | -0.689 | Destabilizing | 0.791 | D | 0.423 | neutral | None | None | None | None | N |
| V/Q | 0.3842 | ambiguous | 0.3724 | ambiguous | -1.05 | Destabilizing | 0.555 | D | 0.423 | neutral | None | None | None | None | N |
| V/R | 0.3574 | ambiguous | 0.3561 | ambiguous | -0.713 | Destabilizing | 0.555 | D | 0.451 | neutral | None | None | None | None | N |
| V/S | 0.2825 | likely_benign | 0.2769 | benign | -1.616 | Destabilizing | 0.555 | D | 0.402 | neutral | None | None | None | None | N |
| V/T | 0.1551 | likely_benign | 0.1528 | benign | -1.424 | Destabilizing | 0.149 | N | 0.351 | neutral | None | None | None | None | N |
| V/W | 0.8374 | likely_pathogenic | 0.8296 | pathogenic | -1.147 | Destabilizing | 0.935 | D | 0.517 | neutral | None | None | None | None | N |
| V/Y | 0.5794 | likely_pathogenic | 0.5623 | ambiguous | -0.795 | Destabilizing | 0.555 | D | 0.393 | 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.