Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14844 | 44755;44756;44757 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| N2AB | 13203 | 39832;39833;39834 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| N2A | 12276 | 37051;37052;37053 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| N2B | 5779 | 17560;17561;17562 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| Novex-1 | 5904 | 17935;17936;17937 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| Novex-2 | 5971 | 18136;18137;18138 | chr2:178625291;178625290;178625289 | chr2:179490018;179490017;179490016 |
| 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/G | rs1053826157  |
None | 1.0 | D | 0.551 | 0.393 | 0.267299060538 | gnomAD-4.0.0 | 2.06323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80449E-06 | 0 | 1.66578E-05 |
| A/T | rs772053966 |
-1.322 | 1.0 | D | 0.686 | 0.434 | 0.24896430686 | gnomAD-2.1.1 | 2.47E-05 | None | None | None | None | N | None | 0 | 9.05E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 0 |
| A/T | rs772053966 |
-1.322 | 1.0 | D | 0.686 | 0.434 | 0.24896430686 | gnomAD-4.0.0 | 1.10051E-05 | None | None | None | None | N | None | 3.04395E-05 | 6.86845E-05 | None | 0 | 2.55076E-05 | None | 0 | 0 | 9.02335E-06 | 0 | 1.66567E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8502 | likely_pathogenic | 0.8682 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/D | 0.9837 | likely_pathogenic | 0.9875 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.620015216 | None | None | N |
| A/E | 0.9841 | likely_pathogenic | 0.9869 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/F | 0.9849 | likely_pathogenic | 0.9846 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/G | 0.2581 | likely_benign | 0.248 | benign | -1.521 | Destabilizing | 1.0 | D | 0.551 | neutral | D | 0.578833382 | None | None | N |
| A/H | 0.9906 | likely_pathogenic | 0.9914 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/I | 0.9776 | likely_pathogenic | 0.9798 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/K | 0.991 | likely_pathogenic | 0.9916 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/L | 0.9416 | likely_pathogenic | 0.9418 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/M | 0.9622 | likely_pathogenic | 0.967 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/N | 0.9779 | likely_pathogenic | 0.9814 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/P | 0.9936 | likely_pathogenic | 0.9937 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.620015216 | None | None | N |
| A/Q | 0.9684 | likely_pathogenic | 0.9684 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/R | 0.967 | likely_pathogenic | 0.9621 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/S | 0.3073 | likely_benign | 0.3275 | benign | -1.791 | Destabilizing | 1.0 | D | 0.571 | neutral | D | 0.617633108 | None | None | N |
| A/T | 0.6197 | likely_pathogenic | 0.6687 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.615687166 | None | None | N |
| A/V | 0.8519 | likely_pathogenic | 0.8763 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.592 | neutral | D | 0.527820172 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/Y | 0.9927 | likely_pathogenic | 0.9931 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.827 | 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.