Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29627 | 89104;89105;89106 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| N2AB | 27986 | 84181;84182;84183 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| N2A | 27059 | 81400;81401;81402 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| N2B | 20562 | 61909;61910;61911 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| Novex-1 | 20687 | 62284;62285;62286 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| Novex-2 | 20754 | 62485;62486;62487 | chr2:178554468;178554467;178554466 | chr2:179419195;179419194;179419193 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1406651794  |
-0.581 | 0.999 | N | 0.654 | 0.332 | 0.456089687795 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.816 | likely_pathogenic | 0.7793 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.513880717 | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9933 | pathogenic | -2.526 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/F | 0.972 | likely_pathogenic | 0.9679 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/G | 0.5572 | ambiguous | 0.5447 | ambiguous | -1.787 | Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.495015994 | None | None | N |
| A/H | 0.9975 | likely_pathogenic | 0.9963 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/I | 0.8884 | likely_pathogenic | 0.8758 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/L | 0.7976 | likely_pathogenic | 0.7722 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.8653 | likely_pathogenic | 0.8502 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/N | 0.992 | likely_pathogenic | 0.9894 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/P | 0.8697 | likely_pathogenic | 0.8115 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.481190926 | None | None | N |
| A/Q | 0.9836 | likely_pathogenic | 0.9781 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| A/R | 0.9941 | likely_pathogenic | 0.992 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/S | 0.4627 | ambiguous | 0.427 | ambiguous | -2.129 | Highly Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.51235978 | None | None | N |
| A/T | 0.7903 | likely_pathogenic | 0.7326 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.721 | deleterious | N | 0.501623837 | None | None | N |
| A/V | 0.7146 | likely_pathogenic | 0.6808 | pathogenic | -0.497 | Destabilizing | 0.999 | D | 0.654 | prob.neutral | N | 0.481515137 | None | None | N |
| A/W | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/Y | 0.9946 | likely_pathogenic | 0.9931 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.839 | deleterious | 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.