Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9568 | 28927;28928;28929 | chr2:178709617;178709616;178709615 | chr2:179574344;179574343;179574342 |
| N2AB | 9251 | 27976;27977;27978 | chr2:178709617;178709616;178709615 | chr2:179574344;179574343;179574342 |
| N2A | 8324 | 25195;25196;25197 | chr2:178709617;178709616;178709615 | chr2:179574344;179574343;179574342 |
| 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 | None | None | None | None | 0.301 | 0.113 | 0.280987212366 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85858E-06 | 0 | 0 |
| V/L | rs1187950337  |
-0.682 | None | None | 0.347 | 0.249 | 0.335414705075 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| V/L | rs1187950337 |
-0.682 | None | None | 0.347 | 0.249 | 0.335414705075 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-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 | 0.2851 | likely_benign | 0.283 | benign | -2.282 | Highly Destabilizing | None | N | 0.301 | neutral | None | None | None | None | N |
| V/C | 0.9367 | likely_pathogenic | 0.9333 | pathogenic | -2.129 | Highly Destabilizing | 0.824 | D | 0.811 | deleterious | None | None | None | None | N |
| V/D | 0.9934 | likely_pathogenic | 0.9966 | pathogenic | -2.515 | Highly Destabilizing | 0.38 | N | 0.854 | deleterious | None | None | None | None | N |
| V/E | 0.9873 | likely_pathogenic | 0.9922 | pathogenic | -2.308 | Highly Destabilizing | 0.317 | N | 0.809 | deleterious | None | None | None | None | N |
| V/F | 0.8892 | likely_pathogenic | 0.8939 | pathogenic | -1.386 | Destabilizing | 0.235 | N | 0.811 | deleterious | None | None | None | None | N |
| V/G | 0.6585 | likely_pathogenic | 0.7058 | pathogenic | -2.825 | Highly Destabilizing | 0.062 | N | 0.786 | deleterious | None | None | None | None | N |
| V/H | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -2.385 | Highly Destabilizing | 0.935 | D | 0.856 | deleterious | None | None | None | None | N |
| V/I | 0.21 | likely_benign | 0.1785 | benign | -0.772 | Destabilizing | 0.002 | N | 0.309 | neutral | None | None | None | None | N |
| V/K | 0.9964 | likely_pathogenic | 0.9979 | pathogenic | -1.882 | Destabilizing | 0.38 | N | 0.806 | deleterious | None | None | None | None | N |
| V/L | 0.7009 | likely_pathogenic | 0.6392 | pathogenic | -0.772 | Destabilizing | None | N | 0.347 | neutral | None | None | None | None | N |
| V/M | 0.7748 | likely_pathogenic | 0.7555 | pathogenic | -0.98 | Destabilizing | 0.188 | N | 0.683 | prob.neutral | None | None | None | None | N |
| V/N | 0.9835 | likely_pathogenic | 0.9904 | pathogenic | -2.159 | Highly Destabilizing | 0.555 | D | 0.866 | deleterious | None | None | None | None | N |
| V/P | 0.994 | likely_pathogenic | 0.9964 | pathogenic | -1.247 | Destabilizing | 0.38 | N | 0.843 | deleterious | None | None | None | None | N |
| V/Q | 0.9903 | likely_pathogenic | 0.9935 | pathogenic | -2.029 | Highly Destabilizing | 0.555 | D | 0.851 | deleterious | None | None | None | None | N |
| V/R | 0.9898 | likely_pathogenic | 0.9934 | pathogenic | -1.667 | Destabilizing | 0.38 | N | 0.862 | deleterious | None | None | None | None | N |
| V/S | 0.786 | likely_pathogenic | 0.8295 | pathogenic | -2.887 | Highly Destabilizing | 0.081 | N | 0.773 | deleterious | None | None | None | None | N |
| V/T | 0.7045 | likely_pathogenic | 0.7214 | pathogenic | -2.524 | Highly Destabilizing | 0.081 | N | 0.667 | neutral | None | None | None | None | N |
| V/W | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.763 | Destabilizing | 0.935 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.9902 | likely_pathogenic | 0.9924 | pathogenic | -1.44 | Destabilizing | 0.555 | D | 0.823 | 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.