Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6889 | 20890;20891;20892 | chr2:178725539;178725538;178725537 | chr2:179590266;179590265;179590264 |
| N2AB | 6572 | 19939;19940;19941 | chr2:178725539;178725538;178725537 | chr2:179590266;179590265;179590264 |
| N2A | 5645 | 17158;17159;17160 | chr2:178725539;178725538;178725537 | chr2:179590266;179590265;179590264 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs373348905  |
-0.817 | 0.956 | N | 0.499 | 0.383 | 0.387529464389 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/E | rs373348905 |
-0.817 | 0.956 | N | 0.499 | 0.383 | 0.387529464389 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86053E-06 | 0 | 0 |
| K/N | None | None | 0.997 | N | 0.603 | 0.351 | 0.222439326576 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| K/Q | rs373348905 |
-0.989 | 0.63 | N | 0.358 | 0.244 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/Q | rs373348905 |
-0.989 | 0.63 | N | 0.358 | 0.244 | None | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| K/T | None | None | 0.997 | N | 0.69 | 0.501 | 0.462022758384 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86059E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8521 | likely_pathogenic | 0.8784 | pathogenic | -1.107 | Destabilizing | 0.983 | D | 0.546 | neutral | None | None | None | None | N |
| K/C | 0.9168 | likely_pathogenic | 0.9177 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| K/D | 0.9494 | likely_pathogenic | 0.9665 | pathogenic | -0.552 | Destabilizing | 0.995 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/E | 0.6047 | likely_pathogenic | 0.675 | pathogenic | -0.364 | Destabilizing | 0.956 | D | 0.499 | neutral | N | 0.517929188 | None | None | N |
| K/F | 0.9255 | likely_pathogenic | 0.9347 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| K/G | 0.8793 | likely_pathogenic | 0.912 | pathogenic | -1.526 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/H | 0.5384 | ambiguous | 0.5524 | ambiguous | -1.72 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/I | 0.7542 | likely_pathogenic | 0.7808 | pathogenic | 0.022 | Stabilizing | 0.999 | D | 0.805 | deleterious | N | 0.505305434 | None | None | N |
| K/L | 0.6474 | likely_pathogenic | 0.6826 | pathogenic | 0.022 | Stabilizing | 0.995 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/M | 0.5486 | ambiguous | 0.5965 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/N | 0.844 | likely_pathogenic | 0.8935 | pathogenic | -0.949 | Destabilizing | 0.997 | D | 0.603 | neutral | N | 0.517675698 | None | None | N |
| K/P | 0.9712 | likely_pathogenic | 0.9842 | pathogenic | -0.327 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| K/Q | 0.3048 | likely_benign | 0.3075 | benign | -0.92 | Destabilizing | 0.63 | D | 0.358 | neutral | N | 0.471578913 | None | None | N |
| K/R | 0.0975 | likely_benign | 0.0935 | benign | -0.728 | Destabilizing | 0.978 | D | 0.538 | neutral | N | 0.464218171 | None | None | N |
| K/S | 0.8863 | likely_pathogenic | 0.9164 | pathogenic | -1.713 | Destabilizing | 0.983 | D | 0.541 | neutral | None | None | None | None | N |
| K/T | 0.7457 | likely_pathogenic | 0.799 | pathogenic | -1.288 | Destabilizing | 0.997 | D | 0.69 | prob.neutral | N | 0.487961648 | None | None | N |
| K/V | 0.7572 | likely_pathogenic | 0.776 | pathogenic | -0.327 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/W | 0.8735 | likely_pathogenic | 0.8857 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| K/Y | 0.8284 | likely_pathogenic | 0.8449 | pathogenic | -0.182 | Destabilizing | 0.999 | D | 0.773 | 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.