Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1703 | 5332;5333;5334 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| N2AB | 1703 | 5332;5333;5334 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| N2A | 1703 | 5332;5333;5334 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| N2B | 1657 | 5194;5195;5196 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| Novex-1 | 1657 | 5194;5195;5196 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| Novex-2 | 1657 | 5194;5195;5196 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
| Novex-3 | 1703 | 5332;5333;5334 | chr2:178776757;178776756;178776755 | chr2:179641484;179641483;179641482 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.841 | 0.792 | 0.926848611622 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/T | rs898070344  |
None | 1.0 | D | 0.828 | 0.817 | 0.862666556756 | gnomAD-4.0.0 | 3.18127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71295E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9223 | likely_pathogenic | 0.9413 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.735169232 | None | None | N |
| P/C | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/G | 0.994 | likely_pathogenic | 0.9964 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/H | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/I | 0.9931 | likely_pathogenic | 0.9903 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.9858 | likely_pathogenic | 0.9843 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.719064612 | None | None | N |
| P/M | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Q | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.786368365 | None | None | N |
| P/R | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.786368365 | None | None | N |
| P/S | 0.9935 | likely_pathogenic | 0.9947 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.753670622 | None | None | N |
| P/T | 0.9891 | likely_pathogenic | 0.9891 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.75376624 | None | None | N |
| P/V | 0.9775 | likely_pathogenic | 0.9729 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.828 | 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.