Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7522 | 22789;22790;22791 | chr2:178722099;178722098;178722097 | chr2:179586826;179586825;179586824 |
| N2AB | 7205 | 21838;21839;21840 | chr2:178722099;178722098;178722097 | chr2:179586826;179586825;179586824 |
| N2A | 6278 | 19057;19058;19059 | chr2:178722099;178722098;178722097 | chr2:179586826;179586825;179586824 |
| 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/G | rs1387361909  |
-0.791 | 0.734 | N | 0.412 | 0.233 | 0.584457892069 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/G | rs1387361909 |
-0.791 | 0.734 | N | 0.412 | 0.233 | 0.584457892069 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs1387361909 |
-0.791 | 0.734 | N | 0.412 | 0.233 | 0.584457892069 | gnomAD-4.0.0 | 3.75455E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.122E-06 | 0 | 0 |
| V/L | None | None | 0.009 | N | 0.288 | 0.125 | 0.335910606209 | gnomAD-4.0.0 | 2.07638E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72017E-06 | 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 | 0.0913 | likely_benign | 0.1102 | benign | -0.544 | Destabilizing | 0.005 | N | 0.073 | neutral | N | 0.470469503 | None | None | N |
| V/C | 0.7009 | likely_pathogenic | 0.7152 | pathogenic | -0.723 | Destabilizing | 0.989 | D | 0.336 | neutral | None | None | None | None | N |
| V/D | 0.1477 | likely_benign | 0.194 | benign | 0.012 | Stabilizing | 0.008 | N | 0.233 | neutral | None | None | None | None | N |
| V/E | 0.1336 | likely_benign | 0.1633 | benign | -0.066 | Destabilizing | None | N | 0.156 | neutral | N | 0.417885812 | None | None | N |
| V/F | 0.121 | likely_benign | 0.136 | benign | -0.581 | Destabilizing | 0.877 | D | 0.378 | neutral | None | None | None | None | N |
| V/G | 0.116 | likely_benign | 0.1437 | benign | -0.712 | Destabilizing | 0.734 | D | 0.412 | neutral | N | 0.475742037 | None | None | N |
| V/H | 0.3492 | ambiguous | 0.4012 | ambiguous | -0.215 | Destabilizing | 0.912 | D | 0.339 | neutral | None | None | None | None | N |
| V/I | 0.0749 | likely_benign | 0.076 | benign | -0.241 | Destabilizing | 0.026 | N | 0.36 | neutral | N | 0.494501156 | None | None | N |
| V/K | 0.1769 | likely_benign | 0.1993 | benign | -0.436 | Destabilizing | 0.323 | N | 0.385 | neutral | None | None | None | None | N |
| V/L | 0.1156 | likely_benign | 0.1258 | benign | -0.241 | Destabilizing | 0.009 | N | 0.288 | neutral | N | 0.475915395 | None | None | N |
| V/M | 0.1039 | likely_benign | 0.1103 | benign | -0.434 | Destabilizing | 0.116 | N | 0.187 | neutral | None | None | None | None | N |
| V/N | 0.1289 | likely_benign | 0.1627 | benign | -0.269 | Destabilizing | 0.124 | N | 0.427 | neutral | None | None | None | None | N |
| V/P | 0.3018 | likely_benign | 0.3797 | ambiguous | -0.307 | Destabilizing | 0.223 | N | 0.396 | neutral | None | None | None | None | N |
| V/Q | 0.1693 | likely_benign | 0.1954 | benign | -0.432 | Destabilizing | 0.026 | N | 0.249 | neutral | None | None | None | None | N |
| V/R | 0.1671 | likely_benign | 0.1888 | benign | -0.006 | Destabilizing | 0.671 | D | 0.413 | neutral | None | None | None | None | N |
| V/S | 0.1038 | likely_benign | 0.1287 | benign | -0.702 | Destabilizing | 0.185 | N | 0.354 | neutral | None | None | None | None | N |
| V/T | 0.1062 | likely_benign | 0.1268 | benign | -0.668 | Destabilizing | 0.155 | N | 0.295 | neutral | None | None | None | None | N |
| V/W | 0.6933 | likely_pathogenic | 0.7392 | pathogenic | -0.678 | Destabilizing | 0.998 | D | 0.337 | neutral | None | None | None | None | N |
| V/Y | 0.3959 | ambiguous | 0.4348 | ambiguous | -0.378 | Destabilizing | 0.935 | D | 0.362 | 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.