Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2346 | 7261;7262;7263 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| N2AB | 2346 | 7261;7262;7263 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| N2A | 2346 | 7261;7262;7263 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| N2B | 2300 | 7123;7124;7125 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| Novex-1 | 2300 | 7123;7124;7125 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| Novex-2 | 2300 | 7123;7124;7125 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
| Novex-3 | 2346 | 7261;7262;7263 | chr2:178774228;178774227;178774226 | chr2:179638955;179638954;179638953 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2091933090  |
None | 0.005 | N | 0.318 | 0.073 | 0.0986583533028 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs2091933090 |
None | 0.005 | N | 0.318 | 0.073 | 0.0986583533028 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | None | 0.029 | N | 0.519 | 0.037 | 0.149567049428 | gnomAD-4.0.0 | 1.36817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79861E-06 | 0 | 0 |
| T/S | rs1204644512 |
-0.631 | None | N | 0.269 | 0.071 | 0.0401082797425 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1204644512 |
-0.631 | None | N | 0.269 | 0.071 | 0.0401082797425 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1204644512 |
-0.631 | None | N | 0.269 | 0.071 | 0.0401082797425 | gnomAD-4.0.0 | 1.85884E-06 | None | None | None | None | N | None | 2.67037E-05 | 0 | None | 0 | 2.22806E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0716 | likely_benign | 0.0622 | benign | -0.745 | Destabilizing | 0.005 | N | 0.318 | neutral | N | 0.448202313 | None | None | N |
| T/C | 0.2908 | likely_benign | 0.2822 | benign | -0.472 | Destabilizing | 0.676 | D | 0.554 | neutral | None | None | None | None | N |
| T/D | 0.3017 | likely_benign | 0.2823 | benign | -0.589 | Destabilizing | 0.038 | N | 0.531 | neutral | None | None | None | None | N |
| T/E | 0.2584 | likely_benign | 0.2419 | benign | -0.616 | Destabilizing | 0.016 | N | 0.534 | neutral | None | None | None | None | N |
| T/F | 0.1669 | likely_benign | 0.1557 | benign | -0.935 | Destabilizing | 0.356 | N | 0.611 | neutral | None | None | None | None | N |
| T/G | 0.1673 | likely_benign | 0.1557 | benign | -0.969 | Destabilizing | 0.016 | N | 0.524 | neutral | None | None | None | None | N |
| T/H | 0.1811 | likely_benign | 0.178 | benign | -1.296 | Destabilizing | 0.001 | N | 0.425 | neutral | None | None | None | None | N |
| T/I | 0.1248 | likely_benign | 0.117 | benign | -0.248 | Destabilizing | 0.029 | N | 0.515 | neutral | N | 0.440617496 | None | None | N |
| T/K | 0.139 | likely_benign | 0.1324 | benign | -0.752 | Destabilizing | 0.038 | N | 0.537 | neutral | None | None | None | None | N |
| T/L | 0.0971 | likely_benign | 0.0902 | benign | -0.248 | Destabilizing | 0.016 | N | 0.528 | neutral | None | None | None | None | N |
| T/M | 0.1115 | likely_benign | 0.0979 | benign | 0.171 | Stabilizing | 0.356 | N | 0.581 | neutral | None | None | None | None | N |
| T/N | 0.1012 | likely_benign | 0.0969 | benign | -0.662 | Destabilizing | 0.029 | N | 0.519 | neutral | N | 0.444966846 | None | None | N |
| T/P | 0.2318 | likely_benign | 0.2053 | benign | -0.383 | Destabilizing | 0.055 | N | 0.6 | neutral | N | 0.500977883 | None | None | N |
| T/Q | 0.178 | likely_benign | 0.1703 | benign | -0.945 | Destabilizing | 0.002 | N | 0.346 | neutral | None | None | None | None | N |
| T/R | 0.1179 | likely_benign | 0.1101 | benign | -0.411 | Destabilizing | 0.038 | N | 0.563 | neutral | None | None | None | None | N |
| T/S | 0.0787 | likely_benign | 0.0724 | benign | -0.877 | Destabilizing | None | N | 0.269 | neutral | N | 0.411368526 | None | None | N |
| T/V | 0.1076 | likely_benign | 0.1015 | benign | -0.383 | Destabilizing | 0.001 | N | 0.254 | neutral | None | None | None | None | N |
| T/W | 0.5327 | ambiguous | 0.4864 | ambiguous | -0.859 | Destabilizing | 0.864 | D | 0.603 | neutral | None | None | None | None | N |
| T/Y | 0.2187 | likely_benign | 0.1995 | benign | -0.624 | Destabilizing | 0.214 | N | 0.603 | 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.