Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31662 | 95209;95210;95211 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| N2AB | 30021 | 90286;90287;90288 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| N2A | 29094 | 87505;87506;87507 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| N2B | 22597 | 68014;68015;68016 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| Novex-1 | 22722 | 68389;68390;68391 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| Novex-2 | 22789 | 68590;68591;68592 | chr2:178546347;178546346;178546345 | chr2:179411074;179411073;179411072 |
| 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/D | rs1164809267  |
-1.643 | 0.484 | N | 0.707 | 0.655 | 0.79693206861 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/D | rs1164809267 |
-1.643 | 0.484 | N | 0.707 | 0.655 | 0.79693206861 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/D | rs1164809267 |
-1.643 | 0.484 | N | 0.707 | 0.655 | 0.79693206861 | gnomAD-4.0.0 | 2.56243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78638E-06 | 0 | 0 |
| V/L | None | None | 0.004 | N | 0.383 | 0.061 | 0.515938915144 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.3072 | likely_benign | 0.3625 | ambiguous | -1.84 | Destabilizing | 0.052 | N | 0.527 | neutral | N | 0.465701189 | None | None | N |
| V/C | 0.6264 | likely_pathogenic | 0.6926 | pathogenic | -1.269 | Destabilizing | 0.935 | D | 0.654 | neutral | None | None | None | None | N |
| V/D | 0.7339 | likely_pathogenic | 0.7747 | pathogenic | -1.894 | Destabilizing | 0.484 | N | 0.707 | prob.neutral | N | 0.506802914 | None | None | N |
| V/E | 0.5968 | likely_pathogenic | 0.6377 | pathogenic | -1.813 | Destabilizing | 0.555 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/F | 0.1452 | likely_benign | 0.1657 | benign | -1.24 | Destabilizing | 0.062 | N | 0.609 | neutral | N | 0.477243547 | None | None | N |
| V/G | 0.4075 | ambiguous | 0.4739 | ambiguous | -2.251 | Highly Destabilizing | 0.211 | N | 0.683 | prob.neutral | N | 0.489655484 | None | None | N |
| V/H | 0.6711 | likely_pathogenic | 0.7127 | pathogenic | -1.888 | Destabilizing | 0.38 | N | 0.693 | prob.neutral | None | None | None | None | N |
| V/I | 0.0648 | likely_benign | 0.0725 | benign | -0.765 | Destabilizing | None | N | 0.144 | neutral | N | 0.427681518 | None | None | N |
| V/K | 0.6355 | likely_pathogenic | 0.6879 | pathogenic | -1.634 | Destabilizing | 0.555 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/L | 0.1684 | likely_benign | 0.2202 | benign | -0.765 | Destabilizing | 0.004 | N | 0.383 | neutral | N | 0.471683011 | None | None | N |
| V/M | 0.1508 | likely_benign | 0.1825 | benign | -0.602 | Destabilizing | 0.38 | N | 0.659 | neutral | None | None | None | None | N |
| V/N | 0.4626 | ambiguous | 0.5183 | ambiguous | -1.553 | Destabilizing | 0.791 | D | 0.722 | prob.delet. | None | None | None | None | N |
| V/P | 0.9004 | likely_pathogenic | 0.9417 | pathogenic | -1.091 | Destabilizing | 0.791 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5594 | ambiguous | 0.6111 | pathogenic | -1.606 | Destabilizing | 0.791 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/R | 0.5466 | ambiguous | 0.5931 | pathogenic | -1.207 | Destabilizing | 0.555 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/S | 0.3923 | ambiguous | 0.4577 | ambiguous | -2.133 | Highly Destabilizing | 0.262 | N | 0.635 | neutral | None | None | None | None | N |
| V/T | 0.2853 | likely_benign | 0.3304 | benign | -1.935 | Destabilizing | 0.149 | N | 0.581 | neutral | None | None | None | None | N |
| V/W | 0.7441 | likely_pathogenic | 0.8031 | pathogenic | -1.576 | Destabilizing | 0.824 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/Y | 0.3855 | ambiguous | 0.4212 | ambiguous | -1.265 | Destabilizing | 0.001 | N | 0.338 | 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.