Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4690 | 14293;14294;14295 | chr2:178739165;178739164;178739163 | chr2:179603892;179603891;179603890 |
| N2AB | 4373 | 13342;13343;13344 | chr2:178739165;178739164;178739163 | chr2:179603892;179603891;179603890 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4327 | 13204;13205;13206 | chr2:178739165;178739164;178739163 | chr2:179603892;179603891;179603890 |
| Novex-1 | 4452 | 13579;13580;13581 | chr2:178739165;178739164;178739163 | chr2:179603892;179603891;179603890 |
| Novex-2 | 4519 | 13780;13781;13782 | chr2:178739165;178739164;178739163 | chr2:179603892;179603891;179603890 |
| 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 | rs1364267725  |
None | 0.78 | D | 0.588 | 0.518 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs1364267725 |
None | 0.78 | D | 0.588 | 0.518 | None | gnomAD-4.0.0 | 5.95023E-06 | None | None | None | None | N | None | 1.39482E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.06624E-06 | 0 | 0 |
| A/P | None | None | 0.984 | D | 0.788 | 0.609 | None | gnomAD-4.0.0 | 7.34258E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.39036E-07 | 0 | 0 |
| A/V | None | None | 0.811 | D | 0.601 | 0.485 | None | gnomAD-4.0.0 | 7.35073E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.39731E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6918 | likely_pathogenic | 0.7294 | pathogenic | -1.346 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| A/D | 0.9353 | likely_pathogenic | 0.9578 | pathogenic | -1.608 | Destabilizing | 0.968 | D | 0.791 | deleterious | D | 0.728803654 | None | None | N |
| A/E | 0.9083 | likely_pathogenic | 0.9447 | pathogenic | -1.585 | Destabilizing | 0.919 | D | 0.771 | deleterious | None | None | None | None | N |
| A/F | 0.857 | likely_pathogenic | 0.9131 | pathogenic | -1.086 | Destabilizing | 0.988 | D | 0.785 | deleterious | None | None | None | None | N |
| A/G | 0.1537 | likely_benign | 0.1595 | benign | -1.379 | Destabilizing | 0.78 | D | 0.588 | neutral | D | 0.599711738 | None | None | N |
| A/H | 0.943 | likely_pathogenic | 0.9636 | pathogenic | -1.486 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| A/I | 0.8536 | likely_pathogenic | 0.8973 | pathogenic | -0.371 | Destabilizing | 0.976 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9496 | likely_pathogenic | 0.9693 | pathogenic | -1.215 | Destabilizing | 0.919 | D | 0.774 | deleterious | None | None | None | None | N |
| A/L | 0.711 | likely_pathogenic | 0.7886 | pathogenic | -0.371 | Destabilizing | 0.851 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/M | 0.748 | likely_pathogenic | 0.8034 | pathogenic | -0.499 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| A/N | 0.8957 | likely_pathogenic | 0.9262 | pathogenic | -1.125 | Destabilizing | 0.976 | D | 0.788 | deleterious | None | None | None | None | N |
| A/P | 0.9813 | likely_pathogenic | 0.9887 | pathogenic | -0.565 | Destabilizing | 0.984 | D | 0.788 | deleterious | D | 0.728803654 | None | None | N |
| A/Q | 0.8746 | likely_pathogenic | 0.9145 | pathogenic | -1.24 | Destabilizing | 0.988 | D | 0.8 | deleterious | None | None | None | None | N |
| A/R | 0.8877 | likely_pathogenic | 0.9269 | pathogenic | -0.967 | Destabilizing | 0.976 | D | 0.783 | deleterious | None | None | None | None | N |
| A/S | 0.1552 | likely_benign | 0.1666 | benign | -1.544 | Destabilizing | 0.046 | N | 0.235 | neutral | N | 0.517648987 | None | None | N |
| A/T | 0.3013 | likely_benign | 0.3425 | ambiguous | -1.418 | Destabilizing | 0.103 | N | 0.432 | neutral | D | 0.579925678 | None | None | N |
| A/V | 0.5397 | ambiguous | 0.6184 | pathogenic | -0.565 | Destabilizing | 0.811 | D | 0.601 | neutral | D | 0.602322067 | None | None | N |
| A/W | 0.9798 | likely_pathogenic | 0.9893 | pathogenic | -1.462 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| A/Y | 0.9345 | likely_pathogenic | 0.96 | pathogenic | -1.029 | Destabilizing | 0.996 | D | 0.788 | 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.