Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2645 | 8158;8159;8160 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| N2AB | 2645 | 8158;8159;8160 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| N2A | 2645 | 8158;8159;8160 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| N2B | 2599 | 8020;8021;8022 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| Novex-1 | 2599 | 8020;8021;8022 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| Novex-2 | 2599 | 8020;8021;8022 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
| Novex-3 | 2645 | 8158;8159;8160 | chr2:178771394;178771393;178771392 | chr2:179636121;179636120;179636119 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs572589233  |
0.179 | 0.999 | N | 0.63 | 0.305 | 0.165133752707 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs572589233 |
0.179 | 0.999 | N | 0.63 | 0.305 | 0.165133752707 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| N/S | rs572589233 |
0.179 | 0.999 | N | 0.63 | 0.305 | 0.165133752707 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/S | rs572589233 |
0.179 | 0.999 | N | 0.63 | 0.305 | 0.165133752707 | gnomAD-4.0.0 | 3.09785E-06 | None | None | None | None | N | None | 3.99797E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47498E-07 | 0 | 1.6E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5137 | ambiguous | 0.5098 | ambiguous | -0.517 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/C | 0.5981 | likely_pathogenic | 0.5544 | ambiguous | 0.395 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| N/D | 0.3121 | likely_benign | 0.3181 | benign | -0.315 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.347474806 | None | None | N |
| N/E | 0.7456 | likely_pathogenic | 0.7545 | pathogenic | -0.319 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/F | 0.7647 | likely_pathogenic | 0.7612 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| N/G | 0.6926 | likely_pathogenic | 0.6934 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| N/H | 0.1951 | likely_benign | 0.1793 | benign | -0.788 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.339643791 | None | None | N |
| N/I | 0.4097 | ambiguous | 0.3945 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.782 | deleterious | N | 0.378625618 | None | None | N |
| N/K | 0.6937 | likely_pathogenic | 0.6957 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.342109728 | None | None | N |
| N/L | 0.4617 | ambiguous | 0.4388 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| N/M | 0.6385 | likely_pathogenic | 0.6249 | pathogenic | 0.579 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/P | 0.9411 | likely_pathogenic | 0.9348 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/Q | 0.6794 | likely_pathogenic | 0.6688 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/R | 0.6967 | likely_pathogenic | 0.6758 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/S | 0.1307 | likely_benign | 0.1353 | benign | -0.381 | Destabilizing | 0.999 | D | 0.63 | neutral | N | 0.34225066 | None | None | N |
| N/T | 0.3274 | likely_benign | 0.3266 | benign | -0.234 | Destabilizing | 0.999 | D | 0.743 | deleterious | N | 0.319326555 | None | None | N |
| N/V | 0.4557 | ambiguous | 0.4416 | ambiguous | -0.119 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| N/W | 0.9391 | likely_pathogenic | 0.9379 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/Y | 0.3084 | likely_benign | 0.2992 | benign | -0.368 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.337793162 | 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.