Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23608 | 71047;71048;71049 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| N2AB | 21967 | 66124;66125;66126 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| N2A | 21040 | 63343;63344;63345 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| N2B | 14543 | 43852;43853;43854 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| Novex-1 | 14668 | 44227;44228;44229 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| Novex-2 | 14735 | 44428;44429;44430 | chr2:178575310;178575309;178575308 | chr2:179440037;179440036;179440035 |
| 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/L | rs780081686  |
None | 0.656 | N | 0.503 | 0.237 | 0.52628473709 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs780081686 |
None | 0.656 | N | 0.503 | 0.237 | 0.52628473709 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs780081686 |
-1.015 | 0.99 | N | 0.528 | 0.332 | 0.570930671769 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/M | rs780081686 |
-1.015 | 0.99 | N | 0.528 | 0.332 | 0.570930671769 | gnomAD-4.0.0 | 3.18394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.82859E-04 | 0 | 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 | 0.441 | ambiguous | 0.4639 | ambiguous | -2.037 | Highly Destabilizing | 0.656 | D | 0.475 | neutral | N | 0.483025622 | None | None | N |
| V/C | 0.8258 | likely_pathogenic | 0.8563 | pathogenic | -1.948 | Destabilizing | 0.998 | D | 0.663 | neutral | None | None | None | None | N |
| V/D | 0.8835 | likely_pathogenic | 0.8935 | pathogenic | -2.416 | Highly Destabilizing | 0.915 | D | 0.716 | prob.delet. | None | None | None | None | N |
| V/E | 0.5439 | ambiguous | 0.5759 | pathogenic | -2.293 | Highly Destabilizing | 0.032 | N | 0.39 | neutral | N | 0.509579678 | None | None | N |
| V/F | 0.316 | likely_benign | 0.3147 | benign | -1.406 | Destabilizing | 0.993 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/G | 0.6277 | likely_pathogenic | 0.6523 | pathogenic | -2.459 | Highly Destabilizing | 0.942 | D | 0.711 | prob.delet. | N | 0.508829332 | None | None | N |
| V/H | 0.8587 | likely_pathogenic | 0.8785 | pathogenic | -1.932 | Destabilizing | 0.994 | D | 0.775 | deleterious | None | None | None | None | N |
| V/I | 0.087 | likely_benign | 0.0881 | benign | -0.902 | Destabilizing | 0.86 | D | 0.495 | neutral | None | None | None | None | N |
| V/K | 0.649 | likely_pathogenic | 0.6884 | pathogenic | -1.579 | Destabilizing | 0.915 | D | 0.672 | neutral | None | None | None | None | N |
| V/L | 0.3229 | likely_benign | 0.3479 | ambiguous | -0.902 | Destabilizing | 0.656 | D | 0.503 | neutral | N | 0.473920588 | None | None | N |
| V/M | 0.1891 | likely_benign | 0.2071 | benign | -1.084 | Destabilizing | 0.99 | D | 0.528 | neutral | N | 0.485863232 | None | None | N |
| V/N | 0.7396 | likely_pathogenic | 0.7685 | pathogenic | -1.73 | Destabilizing | 0.956 | D | 0.779 | deleterious | None | None | None | None | N |
| V/P | 0.9913 | likely_pathogenic | 0.9914 | pathogenic | -1.252 | Destabilizing | 0.978 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Q | 0.5121 | ambiguous | 0.5575 | ambiguous | -1.768 | Destabilizing | 0.915 | D | 0.75 | deleterious | None | None | None | None | N |
| V/R | 0.632 | likely_pathogenic | 0.6603 | pathogenic | -1.223 | Destabilizing | 0.956 | D | 0.783 | deleterious | None | None | None | None | N |
| V/S | 0.5532 | ambiguous | 0.5856 | pathogenic | -2.361 | Highly Destabilizing | 0.754 | D | 0.615 | neutral | None | None | None | None | N |
| V/T | 0.3599 | ambiguous | 0.3878 | ambiguous | -2.112 | Highly Destabilizing | 0.076 | N | 0.317 | neutral | None | None | None | None | N |
| V/W | 0.9306 | likely_pathogenic | 0.9414 | pathogenic | -1.698 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| V/Y | 0.7767 | likely_pathogenic | 0.7932 | pathogenic | -1.38 | Destabilizing | 0.993 | D | 0.697 | prob.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.