Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29637 | 89134;89135;89136 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| N2AB | 27996 | 84211;84212;84213 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| N2A | 27069 | 81430;81431;81432 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| N2B | 20572 | 61939;61940;61941 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| Novex-1 | 20697 | 62314;62315;62316 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| Novex-2 | 20764 | 62515;62516;62517 | chr2:178554202;178554201;178554200 | chr2:179418929;179418928;179418927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | D | 0.917 | 0.653 | 0.851598590201 | gnomAD-4.0.0 | 1.63807E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91549E-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 | 0.4417 | ambiguous | 0.5342 | ambiguous | -2.144 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.51863388 | None | None | N |
| P/C | 0.7735 | likely_pathogenic | 0.7926 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/D | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -3.008 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9966 | pathogenic | -2.862 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/G | 0.9629 | likely_pathogenic | 0.9735 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/H | 0.9942 | likely_pathogenic | 0.9953 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/I | 0.9636 | likely_pathogenic | 0.9712 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/K | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/L | 0.8989 | likely_pathogenic | 0.9173 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.553423585 | None | None | N |
| P/M | 0.9785 | likely_pathogenic | 0.9803 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/N | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/Q | 0.9899 | likely_pathogenic | 0.9923 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.573302267 | None | None | N |
| P/R | 0.9913 | likely_pathogenic | 0.9937 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.572795288 | None | None | N |
| P/S | 0.8951 | likely_pathogenic | 0.9218 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.573048777 | None | None | N |
| P/T | 0.8684 | likely_pathogenic | 0.9002 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.560767419 | None | None | N |
| P/V | 0.8494 | likely_pathogenic | 0.878 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.916 | 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.