Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24892 | 74899;74900;74901 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| N2AB | 23251 | 69976;69977;69978 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| N2A | 22324 | 67195;67196;67197 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| N2B | 15827 | 47704;47705;47706 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| Novex-1 | 15952 | 48079;48080;48081 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| Novex-2 | 16019 | 48280;48281;48282 | chr2:178571458;178571457;178571456 | chr2:179436185;179436184;179436183 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | None | None | 0.983 | D | 0.795 | 0.483 | 0.343101102393 | gnomAD-4.0.0 | 6.84352E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 0 | 0 |
| S/T | rs1190621446  |
-1.085 | 0.944 | D | 0.707 | 0.369 | 0.368183359018 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/T | rs1190621446 |
-1.085 | 0.944 | D | 0.707 | 0.369 | 0.368183359018 | gnomAD-4.0.0 | 3.18406E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71893E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6059 | likely_pathogenic | 0.5947 | pathogenic | -0.87 | Destabilizing | 0.693 | D | 0.677 | prob.neutral | None | None | None | None | N |
| S/C | 0.8681 | likely_pathogenic | 0.8634 | pathogenic | -0.677 | Destabilizing | 0.999 | D | 0.757 | deleterious | D | 0.546818133 | None | None | N |
| S/D | 0.9824 | likely_pathogenic | 0.9804 | pathogenic | -0.936 | Destabilizing | 0.916 | D | 0.741 | deleterious | None | None | None | None | N |
| S/E | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -0.847 | Destabilizing | 0.957 | D | 0.757 | deleterious | None | None | None | None | N |
| S/F | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -0.688 | Destabilizing | 0.996 | D | 0.841 | deleterious | None | None | None | None | N |
| S/G | 0.1328 | likely_benign | 0.1312 | benign | -1.202 | Destabilizing | 0.011 | N | 0.428 | neutral | N | 0.458384774 | None | None | N |
| S/H | 0.9906 | likely_pathogenic | 0.99 | pathogenic | -1.531 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| S/I | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -0.06 | Destabilizing | 0.994 | D | 0.847 | deleterious | D | 0.534954849 | None | None | N |
| S/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.757 | Destabilizing | 0.916 | D | 0.756 | deleterious | None | None | None | None | N |
| S/L | 0.9822 | likely_pathogenic | 0.9818 | pathogenic | -0.06 | Destabilizing | 0.987 | D | 0.813 | deleterious | None | None | None | None | N |
| S/M | 0.9864 | likely_pathogenic | 0.9852 | pathogenic | 0.046 | Stabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| S/N | 0.9457 | likely_pathogenic | 0.9444 | pathogenic | -1.0 | Destabilizing | 0.892 | D | 0.734 | prob.delet. | D | 0.534701359 | None | None | N |
| S/P | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -0.295 | Destabilizing | 0.996 | D | 0.795 | deleterious | None | None | None | None | N |
| S/Q | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -1.001 | Destabilizing | 0.996 | D | 0.767 | deleterious | None | None | None | None | N |
| S/R | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.798 | Destabilizing | 0.983 | D | 0.795 | deleterious | D | 0.545043707 | None | None | N |
| S/T | 0.8404 | likely_pathogenic | 0.836 | pathogenic | -0.871 | Destabilizing | 0.944 | D | 0.707 | prob.neutral | D | 0.53444787 | None | None | N |
| S/V | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -0.295 | Destabilizing | 0.987 | D | 0.835 | deleterious | None | None | None | None | N |
| S/W | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -0.756 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| S/Y | 0.9905 | likely_pathogenic | 0.9901 | pathogenic | -0.447 | Destabilizing | 0.996 | D | 0.842 | 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.