Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35723 | 107392;107393;107394 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| N2AB | 34082 | 102469;102470;102471 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| N2A | 33155 | 99688;99689;99690 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| N2B | 26658 | 80197;80198;80199 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| Novex-1 | 26783 | 80572;80573;80574 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| Novex-2 | 26850 | 80773;80774;80775 | chr2:178528584;178528583;178528582 | chr2:179393311;179393310;179393309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1687597849  |
None | 1.0 | D | 0.872 | 0.724 | 0.860559553989 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs1687597849 |
None | 1.0 | D | 0.872 | 0.724 | 0.860559553989 | gnomAD-4.0.0 | 3.04468E-06 | None | None | None | None | N | None | 0 | 6.14553E-05 | None | 0 | 0 | None | 0 | 0 | 1.20491E-06 | 0 | 3.40229E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7327 | likely_pathogenic | 0.6469 | pathogenic | -1.505 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | N |
| C/D | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| C/F | 0.8746 | likely_pathogenic | 0.8331 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.540518392 | None | None | N |
| C/G | 0.6328 | likely_pathogenic | 0.5238 | ambiguous | -1.898 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.532124601 | None | None | N |
| C/H | 0.9963 | likely_pathogenic | 0.9945 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/I | 0.9075 | likely_pathogenic | 0.8864 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| C/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/L | 0.9175 | likely_pathogenic | 0.8919 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| C/M | 0.957 | likely_pathogenic | 0.9428 | pathogenic | 0.261 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/N | 0.9935 | likely_pathogenic | 0.9903 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| C/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| C/Q | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| C/R | 0.9944 | likely_pathogenic | 0.992 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.558876136 | None | None | N |
| C/S | 0.7914 | likely_pathogenic | 0.7148 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.532124601 | None | None | N |
| C/T | 0.8662 | likely_pathogenic | 0.8224 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| C/V | 0.7628 | likely_pathogenic | 0.7214 | pathogenic | -0.77 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| C/W | 0.9862 | likely_pathogenic | 0.9807 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.558876136 | None | None | N |
| C/Y | 0.9723 | likely_pathogenic | 0.9592 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.535910036 | 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.