Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8058 | 24397;24398;24399 | chr2:178719218;178719217;178719216 | chr2:179583945;179583944;179583943 |
| N2AB | 7741 | 23446;23447;23448 | chr2:178719218;178719217;178719216 | chr2:179583945;179583944;179583943 |
| N2A | 6814 | 20665;20666;20667 | chr2:178719218;178719217;178719216 | chr2:179583945;179583944;179583943 |
| 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 | rs1392397772  |
-1.903 | 0.027 | D | 0.457 | 0.238 | 0.536287059136 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1392397772 |
-1.903 | 0.027 | D | 0.457 | 0.238 | 0.536287059136 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1309625913 |
-0.587 | 0.004 | N | 0.329 | 0.133 | 0.411665641125 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/M | rs1309625913 |
-0.587 | 0.004 | N | 0.329 | 0.133 | 0.411665641125 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85848E-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 | 0.132 | likely_benign | 0.1599 | benign | -1.63 | Destabilizing | 0.027 | N | 0.457 | neutral | D | 0.529576522 | None | None | I |
| V/C | 0.6963 | likely_pathogenic | 0.7491 | pathogenic | -1.095 | Destabilizing | 0.935 | D | 0.595 | neutral | None | None | None | None | I |
| V/D | 0.3786 | ambiguous | 0.4424 | ambiguous | -1.568 | Destabilizing | 0.149 | N | 0.709 | prob.delet. | None | None | None | None | I |
| V/E | 0.1712 | likely_benign | 0.2113 | benign | -1.439 | Destabilizing | 0.062 | N | 0.663 | neutral | N | 0.440264026 | None | None | I |
| V/F | 0.1237 | likely_benign | 0.1438 | benign | -0.995 | Destabilizing | 0.38 | N | 0.627 | neutral | None | None | None | None | I |
| V/G | 0.2603 | likely_benign | 0.3124 | benign | -2.073 | Highly Destabilizing | 0.117 | N | 0.663 | neutral | N | 0.517852823 | None | None | I |
| V/H | 0.3464 | ambiguous | 0.4216 | ambiguous | -1.717 | Destabilizing | 0.935 | D | 0.689 | prob.neutral | None | None | None | None | I |
| V/I | 0.068 | likely_benign | 0.0703 | benign | -0.45 | Destabilizing | 0.035 | N | 0.532 | neutral | None | None | None | None | I |
| V/K | 0.1439 | likely_benign | 0.1883 | benign | -1.102 | Destabilizing | None | N | 0.529 | neutral | None | None | None | None | I |
| V/L | 0.1455 | likely_benign | 0.1736 | benign | -0.45 | Destabilizing | 0.009 | N | 0.405 | neutral | N | 0.495618664 | None | None | I |
| V/M | 0.0897 | likely_benign | 0.1056 | benign | -0.472 | Destabilizing | 0.004 | N | 0.329 | neutral | N | 0.513377705 | None | None | I |
| V/N | 0.2641 | likely_benign | 0.3319 | benign | -1.141 | Destabilizing | 0.38 | N | 0.702 | prob.neutral | None | None | None | None | I |
| V/P | 0.921 | likely_pathogenic | 0.9385 | pathogenic | -0.812 | Destabilizing | 0.555 | D | 0.673 | neutral | None | None | None | None | I |
| V/Q | 0.1737 | likely_benign | 0.2141 | benign | -1.123 | Destabilizing | 0.38 | N | 0.675 | prob.neutral | None | None | None | None | I |
| V/R | 0.1243 | likely_benign | 0.1601 | benign | -0.872 | Destabilizing | 0.081 | N | 0.683 | prob.neutral | None | None | None | None | I |
| V/S | 0.1859 | likely_benign | 0.2271 | benign | -1.793 | Destabilizing | 0.081 | N | 0.642 | neutral | None | None | None | None | I |
| V/T | 0.1213 | likely_benign | 0.1503 | benign | -1.537 | Destabilizing | 0.002 | N | 0.25 | neutral | None | None | None | None | I |
| V/W | 0.6679 | likely_pathogenic | 0.736 | pathogenic | -1.366 | Destabilizing | 0.935 | D | 0.697 | prob.neutral | None | None | None | None | I |
| V/Y | 0.4042 | ambiguous | 0.4754 | ambiguous | -0.99 | Destabilizing | 0.555 | D | 0.621 | 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.