Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7890 | 23893;23894;23895 | chr2:178719824;178719823;178719822 | chr2:179584551;179584550;179584549 |
| N2AB | 7573 | 22942;22943;22944 | chr2:178719824;178719823;178719822 | chr2:179584551;179584550;179584549 |
| N2A | 6646 | 20161;20162;20163 | chr2:178719824;178719823;178719822 | chr2:179584551;179584550;179584549 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1356279706  |
-0.341 | 0.024 | N | 0.281 | 0.265 | 0.40032279838 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.15E-06 | 0 |
| R/I | rs370939248 |
0.5 | 0.029 | N | 0.385 | 0.332 | None | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.75E-05 | 0 |
| R/I | rs370939248 |
0.5 | 0.029 | N | 0.385 | 0.332 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/I | rs370939248 |
0.5 | 0.029 | N | 0.385 | 0.332 | None | gnomAD-4.0.0 | 1.55928E-05 | None | None | None | None | N | None | 1.34485E-05 | 1.70097E-05 | None | 0 | 0 | None | 0 | 0 | 1.78882E-05 | 0 | 3.22924E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1785 | likely_benign | 0.1496 | benign | -0.07 | Destabilizing | 0.007 | N | 0.216 | neutral | None | None | None | None | N |
| R/C | 0.1258 | likely_benign | 0.1257 | benign | -0.197 | Destabilizing | 0.676 | D | 0.279 | neutral | None | None | None | None | N |
| R/D | 0.3669 | ambiguous | 0.333 | benign | 0.004 | Stabilizing | 0.072 | N | 0.382 | neutral | None | None | None | None | N |
| R/E | 0.1651 | likely_benign | 0.1479 | benign | 0.066 | Stabilizing | 0.016 | N | 0.233 | neutral | None | None | None | None | N |
| R/F | 0.3473 | ambiguous | 0.3078 | benign | -0.299 | Destabilizing | 0.214 | N | 0.323 | neutral | None | None | None | None | N |
| R/G | 0.1444 | likely_benign | 0.1267 | benign | -0.263 | Destabilizing | 0.024 | N | 0.281 | neutral | N | 0.486150537 | None | None | N |
| R/H | 0.0813 | likely_benign | 0.082 | benign | -0.696 | Destabilizing | 0.356 | N | 0.379 | neutral | None | None | None | None | N |
| R/I | 0.1262 | likely_benign | 0.1119 | benign | 0.403 | Stabilizing | 0.029 | N | 0.385 | neutral | N | 0.498178405 | None | None | N |
| R/K | 0.0809 | likely_benign | 0.0708 | benign | -0.078 | Destabilizing | None | N | 0.139 | neutral | N | 0.434932777 | None | None | N |
| R/L | 0.1372 | likely_benign | 0.1252 | benign | 0.403 | Stabilizing | 0.016 | N | 0.285 | neutral | None | None | None | None | N |
| R/M | 0.1355 | likely_benign | 0.1145 | benign | 0.021 | Stabilizing | 0.356 | N | 0.329 | neutral | None | None | None | None | N |
| R/N | 0.2879 | likely_benign | 0.237 | benign | 0.176 | Stabilizing | 0.072 | N | 0.258 | neutral | None | None | None | None | N |
| R/P | 0.8429 | likely_pathogenic | 0.8116 | pathogenic | 0.266 | Stabilizing | 0.136 | N | 0.396 | neutral | None | None | None | None | N |
| R/Q | 0.0731 | likely_benign | 0.0703 | benign | 0.048 | Stabilizing | 0.003 | N | 0.18 | neutral | None | None | None | None | N |
| R/S | 0.2041 | likely_benign | 0.174 | benign | -0.239 | Destabilizing | 0.002 | N | 0.191 | neutral | N | 0.470989578 | None | None | N |
| R/T | 0.1027 | likely_benign | 0.0834 | benign | -0.043 | Destabilizing | None | N | 0.183 | neutral | N | 0.414405577 | None | None | N |
| R/V | 0.1556 | likely_benign | 0.1361 | benign | 0.266 | Stabilizing | None | N | 0.267 | neutral | None | None | None | None | N |
| R/W | 0.136 | likely_benign | 0.1352 | benign | -0.323 | Destabilizing | 0.864 | D | 0.285 | neutral | None | None | None | None | N |
| R/Y | 0.2468 | likely_benign | 0.2245 | benign | 0.087 | Stabilizing | 0.356 | N | 0.359 | 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.