Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| N2AB | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| N2A | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| N2B | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| Novex-1 | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| Novex-2 | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
| Novex-3 | 176 | 751;752;753 | chr2:178800452;178800451;178800450 | chr2:179665179;179665178;179665177 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.731 | 0.601 | 0.732523770267 | gnomAD-4.0.0 | 1.59045E-06 | None | None | None | -0.768(TCAP) | N | None | 0 | 0 | None | 0 | 2.77239E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.995 | N | 0.588 | 0.362 | 0.722692856958 | gnomAD-4.0.0 | 6.84061E-07 | None | None | None | -1.347(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99295E-07 | 0 | 0 |
| V/L | rs941179323  |
0.026 | 0.987 | D | 0.705 | 0.537 | 0.676533949136 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | -1.347(TCAP) | N | None | 1.20668E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs941179323 |
0.026 | 0.987 | D | 0.705 | 0.537 | 0.676533949136 | gnomAD-4.0.0 | 6.84061E-07 | None | None | None | -1.347(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7365 | likely_pathogenic | 0.8322 | pathogenic | -1.7 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | N | 0.50992707 | None | -0.768(TCAP) | N |
| V/C | 0.9645 | likely_pathogenic | 0.9684 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.075(TCAP) | N |
| V/D | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | -0.572(TCAP) | N |
| V/E | 0.996 | likely_pathogenic | 0.9973 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.698951814 | None | -0.739(TCAP) | N |
| V/F | 0.9254 | likely_pathogenic | 0.9386 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -1.98(TCAP) | N |
| V/G | 0.9341 | likely_pathogenic | 0.9569 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.698951814 | None | -0.586(TCAP) | N |
| V/H | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | -0.744(TCAP) | N |
| V/I | 0.1825 | likely_benign | 0.1961 | benign | -0.065 | Destabilizing | 0.995 | D | 0.588 | neutral | N | 0.521296596 | None | -1.347(TCAP) | N |
| V/K | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | -0.977(TCAP) | N |
| V/L | 0.8051 | likely_pathogenic | 0.8499 | pathogenic | -0.065 | Destabilizing | 0.987 | D | 0.705 | prob.neutral | D | 0.580097011 | None | -1.347(TCAP) | N |
| V/M | 0.8171 | likely_pathogenic | 0.8595 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | -1.571(TCAP) | N |
| V/N | 0.997 | likely_pathogenic | 0.9982 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | -0.776(TCAP) | N |
| V/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | -1.151(TCAP) | N |
| V/Q | 0.9953 | likely_pathogenic | 0.9969 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -0.888(TCAP) | N |
| V/R | 0.9944 | likely_pathogenic | 0.996 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | -1.102(TCAP) | N |
| V/S | 0.9698 | likely_pathogenic | 0.9802 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -0.37(TCAP) | N |
| V/T | 0.9168 | likely_pathogenic | 0.9429 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | -0.591(TCAP) | N |
| V/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -2.436(TCAP) | N |
| V/Y | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -2.051(TCAP) | 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.