Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9409 | 28450;28451;28452 | chr2:178710872;178710871;178710870 | chr2:179575599;179575598;179575597 |
| N2AB | 9092 | 27499;27500;27501 | chr2:178710872;178710871;178710870 | chr2:179575599;179575598;179575597 |
| N2A | 8165 | 24718;24719;24720 | chr2:178710872;178710871;178710870 | chr2:179575599;179575598;179575597 |
| 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 | None | None | None | None | 0.149 | 0.144 | 0.422283790207 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/M | rs1239606732  |
-0.413 | 0.093 | None | 0.335 | 0.085 | 0.366085729538 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs1239606732 |
-0.413 | 0.093 | None | 0.335 | 0.085 | 0.366085729538 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1239606732 |
-0.413 | 0.093 | None | 0.335 | 0.085 | 0.366085729538 | gnomAD-4.0.0 | 8.05552E-06 | None | None | None | None | I | None | 9.34205E-05 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 8.47578E-07 | 0 | 6.40369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1084 | likely_benign | 0.1125 | benign | -0.728 | Destabilizing | None | N | 0.149 | neutral | None | None | None | None | I |
| V/C | 0.649 | likely_pathogenic | 0.6533 | pathogenic | -0.765 | Destabilizing | 0.356 | N | 0.407 | neutral | None | None | None | None | I |
| V/D | 0.2097 | likely_benign | 0.2189 | benign | -0.342 | Destabilizing | 0.072 | N | 0.483 | neutral | None | None | None | None | I |
| V/E | 0.193 | likely_benign | 0.2121 | benign | -0.418 | Destabilizing | 0.055 | N | 0.503 | neutral | None | None | None | None | I |
| V/F | 0.1197 | likely_benign | 0.1083 | benign | -0.673 | Destabilizing | 0.12 | N | 0.416 | neutral | None | None | None | None | I |
| V/G | 0.1521 | likely_benign | 0.1664 | benign | -0.924 | Destabilizing | 0.029 | N | 0.477 | neutral | None | None | None | None | I |
| V/H | 0.3671 | ambiguous | 0.4011 | ambiguous | -0.348 | Destabilizing | 0.864 | D | 0.481 | neutral | None | None | None | None | I |
| V/I | 0.0778 | likely_benign | 0.0751 | benign | -0.344 | Destabilizing | None | N | 0.158 | neutral | None | None | None | None | I |
| V/K | 0.2312 | likely_benign | 0.2656 | benign | -0.666 | Destabilizing | 0.072 | N | 0.499 | neutral | None | None | None | None | I |
| V/L | 0.1229 | likely_benign | 0.1339 | benign | -0.344 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | I |
| V/M | 0.1113 | likely_benign | 0.114 | benign | -0.422 | Destabilizing | 0.093 | N | 0.335 | neutral | None | None | None | None | I |
| V/N | 0.1571 | likely_benign | 0.1745 | benign | -0.45 | Destabilizing | 0.214 | N | 0.505 | neutral | None | None | None | None | I |
| V/P | 0.2403 | likely_benign | 0.2756 | benign | -0.436 | Destabilizing | None | N | 0.378 | neutral | None | None | None | None | I |
| V/Q | 0.2067 | likely_benign | 0.2432 | benign | -0.66 | Destabilizing | 0.356 | N | 0.493 | neutral | None | None | None | None | I |
| V/R | 0.1858 | likely_benign | 0.2108 | benign | -0.122 | Destabilizing | 0.214 | N | 0.501 | neutral | None | None | None | None | I |
| V/S | 0.1228 | likely_benign | 0.135 | benign | -0.895 | Destabilizing | 0.003 | N | 0.365 | neutral | None | None | None | None | I |
| V/T | 0.1183 | likely_benign | 0.1293 | benign | -0.864 | Destabilizing | 0.001 | N | 0.201 | neutral | None | None | None | None | I |
| V/W | 0.6531 | likely_pathogenic | 0.6273 | pathogenic | -0.756 | Destabilizing | 0.864 | D | 0.513 | neutral | None | None | None | None | I |
| V/Y | 0.3967 | ambiguous | 0.385 | ambiguous | -0.476 | Destabilizing | 0.356 | N | 0.413 | neutral | None | None | None | None | I |
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.