Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5811 | 17656;17657;17658 | chr2:178731335;178731334;178731333 | chr2:179596062;179596061;179596060 |
| N2AB | 5494 | 16705;16706;16707 | chr2:178731335;178731334;178731333 | chr2:179596062;179596061;179596060 |
| N2A | 4567 | 13924;13925;13926 | chr2:178731335;178731334;178731333 | chr2:179596062;179596061;179596060 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | None | None | 0.959 | N | 0.379 | 0.262 | 0.299086750705 | gnomAD-4.0.0 | 2.05267E-06 | None | None | None | None | I | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 1.87336E-05 | 0 | 8.99486E-07 | 0 | 0 |
| Q/P | rs776791851  |
-0.039 | 0.998 | N | 0.531 | 0.521 | 0.421550847248 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/P | rs776791851 |
-0.039 | 0.998 | N | 0.531 | 0.521 | 0.421550847248 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs776791851 |
-0.039 | 0.998 | N | 0.531 | 0.521 | 0.421550847248 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | I | None | 2.41161E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2716 | likely_benign | 0.2717 | benign | -0.726 | Destabilizing | 0.864 | D | 0.411 | neutral | None | None | None | None | I |
| Q/C | 0.733 | likely_pathogenic | 0.7402 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.566 | neutral | None | None | None | None | I |
| Q/D | 0.6087 | likely_pathogenic | 0.6027 | pathogenic | -0.346 | Destabilizing | 0.969 | D | 0.387 | neutral | None | None | None | None | I |
| Q/E | 0.1184 | likely_benign | 0.1188 | benign | -0.236 | Destabilizing | 0.906 | D | 0.355 | neutral | N | 0.465255684 | None | None | I |
| Q/F | 0.7917 | likely_pathogenic | 0.8008 | pathogenic | -0.281 | Destabilizing | 0.995 | D | 0.583 | neutral | None | None | None | None | I |
| Q/G | 0.4074 | ambiguous | 0.4241 | ambiguous | -1.092 | Destabilizing | 0.969 | D | 0.507 | neutral | None | None | None | None | I |
| Q/H | 0.3374 | likely_benign | 0.3678 | ambiguous | -0.737 | Destabilizing | 0.998 | D | 0.476 | neutral | N | 0.483517191 | None | None | I |
| Q/I | 0.4657 | ambiguous | 0.4798 | ambiguous | 0.217 | Stabilizing | 0.939 | D | 0.555 | neutral | None | None | None | None | I |
| Q/K | 0.1684 | likely_benign | 0.1694 | benign | -0.375 | Destabilizing | 0.959 | D | 0.379 | neutral | N | 0.501965846 | None | None | I |
| Q/L | 0.1958 | likely_benign | 0.2086 | benign | 0.217 | Stabilizing | 0.921 | D | 0.475 | neutral | D | 0.52572814 | None | None | I |
| Q/M | 0.4573 | ambiguous | 0.465 | ambiguous | 0.495 | Stabilizing | 0.995 | D | 0.481 | neutral | None | None | None | None | I |
| Q/N | 0.4778 | ambiguous | 0.481 | ambiguous | -0.877 | Destabilizing | 0.969 | D | 0.451 | neutral | None | None | None | None | I |
| Q/P | 0.763 | likely_pathogenic | 0.7844 | pathogenic | -0.067 | Destabilizing | 0.998 | D | 0.531 | neutral | N | 0.49529157 | None | None | I |
| Q/R | 0.1632 | likely_benign | 0.166 | benign | -0.289 | Destabilizing | 0.979 | D | 0.499 | neutral | N | 0.506526304 | None | None | I |
| Q/S | 0.3244 | likely_benign | 0.3157 | benign | -1.027 | Destabilizing | 0.546 | D | 0.193 | neutral | None | None | None | None | I |
| Q/T | 0.2729 | likely_benign | 0.2711 | benign | -0.721 | Destabilizing | 0.969 | D | 0.427 | neutral | None | None | None | None | I |
| Q/V | 0.2971 | likely_benign | 0.3087 | benign | -0.067 | Destabilizing | 0.293 | N | 0.374 | neutral | None | None | None | None | I |
| Q/W | 0.7326 | likely_pathogenic | 0.7556 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | I |
| Q/Y | 0.6006 | likely_pathogenic | 0.6227 | pathogenic | 0.066 | Stabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | I |
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.