Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16405 | 49438;49439;49440 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| N2AB | 14764 | 44515;44516;44517 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| N2A | 13837 | 41734;41735;41736 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| N2B | 7340 | 22243;22244;22245 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| Novex-1 | 7465 | 22618;22619;22620 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| Novex-2 | 7532 | 22819;22820;22821 | chr2:178614184;178614183;178614182 | chr2:179478911;179478910;179478909 |
| 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/I | rs570644860  |
-0.417 | 0.013 | N | 0.231 | 0.088 | 0.312306559268 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 9.69E-05 | 1.04384E-04 | None | 6.54E-05 | None | 0 | 1.57E-05 | 0 |
| V/I | rs570644860 |
-0.417 | 0.013 | N | 0.231 | 0.088 | 0.312306559268 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| V/I | rs570644860 |
-0.417 | 0.013 | N | 0.231 | 0.088 | 0.312306559268 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs570644860 |
-0.417 | 0.013 | N | 0.231 | 0.088 | 0.312306559268 | gnomAD-4.0.0 | 2.85289E-05 | None | None | None | None | N | None | 4.00427E-05 | 1.67068E-05 | None | 3.38089E-05 | 3.14451E-04 | None | 0 | 1.65125E-04 | 1.86573E-05 | 3.2954E-05 | 1.60241E-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 | 0.6485 | likely_pathogenic | 0.5706 | pathogenic | -1.895 | Destabilizing | 0.645 | D | 0.529 | neutral | D | 0.545531414 | None | None | N |
| V/C | 0.8791 | likely_pathogenic | 0.8453 | pathogenic | -1.641 | Destabilizing | 0.995 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/D | 0.9799 | likely_pathogenic | 0.9652 | pathogenic | -1.923 | Destabilizing | 0.928 | D | 0.773 | deleterious | D | 0.599033781 | None | None | N |
| V/E | 0.9303 | likely_pathogenic | 0.894 | pathogenic | -1.74 | Destabilizing | 0.945 | D | 0.7 | prob.neutral | None | None | None | None | N |
| V/F | 0.8042 | likely_pathogenic | 0.6917 | pathogenic | -1.186 | Destabilizing | 0.942 | D | 0.689 | prob.neutral | D | 0.590304412 | None | None | N |
| V/G | 0.8587 | likely_pathogenic | 0.8132 | pathogenic | -2.405 | Highly Destabilizing | 0.928 | D | 0.771 | deleterious | N | 0.520961904 | None | None | N |
| V/H | 0.9786 | likely_pathogenic | 0.9638 | pathogenic | -2.066 | Highly Destabilizing | 0.995 | D | 0.763 | deleterious | None | None | None | None | N |
| V/I | 0.0872 | likely_benign | 0.0838 | benign | -0.498 | Destabilizing | 0.013 | N | 0.231 | neutral | N | 0.477576577 | None | None | N |
| V/K | 0.9453 | likely_pathogenic | 0.9146 | pathogenic | -1.411 | Destabilizing | 0.945 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/L | 0.5474 | ambiguous | 0.4309 | ambiguous | -0.498 | Destabilizing | 0.247 | N | 0.451 | neutral | N | 0.46060311 | None | None | N |
| V/M | 0.4733 | ambiguous | 0.3748 | ambiguous | -0.658 | Destabilizing | 0.894 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/N | 0.8784 | likely_pathogenic | 0.8148 | pathogenic | -1.61 | Destabilizing | 0.981 | D | 0.774 | deleterious | None | None | None | None | N |
| V/P | 0.9654 | likely_pathogenic | 0.958 | pathogenic | -0.933 | Destabilizing | 0.981 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/Q | 0.9048 | likely_pathogenic | 0.859 | pathogenic | -1.503 | Destabilizing | 0.981 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/R | 0.9286 | likely_pathogenic | 0.8888 | pathogenic | -1.258 | Destabilizing | 0.945 | D | 0.776 | deleterious | None | None | None | None | N |
| V/S | 0.7768 | likely_pathogenic | 0.7096 | pathogenic | -2.33 | Highly Destabilizing | 0.945 | D | 0.7 | prob.neutral | None | None | None | None | N |
| V/T | 0.6661 | likely_pathogenic | 0.5855 | pathogenic | -1.995 | Destabilizing | 0.707 | D | 0.627 | neutral | None | None | None | None | N |
| V/W | 0.9948 | likely_pathogenic | 0.9892 | pathogenic | -1.568 | Destabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/Y | 0.9752 | likely_pathogenic | 0.9522 | pathogenic | -1.19 | Destabilizing | 0.945 | D | 0.684 | 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.