Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7297 | 22114;22115;22116 | chr2:178723118;178723117;178723116 | chr2:179587845;179587844;179587843 |
| N2AB | 6980 | 21163;21164;21165 | chr2:178723118;178723117;178723116 | chr2:179587845;179587844;179587843 |
| N2A | 6053 | 18382;18383;18384 | chr2:178723118;178723117;178723116 | chr2:179587845;179587844;179587843 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.22 | N | 0.493 | 0.327 | 0.419461527279 | gnomAD-4.0.0 | 6.84293E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99539E-07 | 0 | 0 |
| A/S | rs760654464  |
-0.718 | 0.124 | N | 0.557 | 0.12 | 0.264081493735 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/S | rs760654464 |
-0.718 | 0.124 | N | 0.557 | 0.12 | 0.264081493735 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs760654464 |
-0.718 | 0.124 | N | 0.557 | 0.12 | 0.264081493735 | gnomAD-4.0.0 | 8.67678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18676E-05 | 0 | 0 |
| A/T | rs760654464 |
None | 0.001 | D | 0.263 | 0.147 | 0.321108458156 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs760654464 |
None | 0.001 | D | 0.263 | 0.147 | 0.321108458156 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4987 | ambiguous | 0.487 | ambiguous | -0.86 | Destabilizing | 0.909 | D | 0.529 | neutral | None | None | None | None | N |
| A/D | 0.1947 | likely_benign | 0.2113 | benign | -0.3 | Destabilizing | 0.003 | N | 0.437 | neutral | None | None | None | None | N |
| A/E | 0.1425 | likely_benign | 0.1592 | benign | -0.394 | Destabilizing | 0.124 | N | 0.566 | neutral | D | 0.523629197 | None | None | N |
| A/F | 0.2572 | likely_benign | 0.2815 | benign | -0.942 | Destabilizing | 0.726 | D | 0.724 | prob.delet. | None | None | None | None | N |
| A/G | 0.1213 | likely_benign | 0.1314 | benign | -0.745 | Destabilizing | 0.22 | N | 0.493 | neutral | N | 0.499343721 | None | None | N |
| A/H | 0.4025 | ambiguous | 0.4172 | ambiguous | -0.819 | Destabilizing | 0.832 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/I | 0.2091 | likely_benign | 0.2294 | benign | -0.325 | Destabilizing | 0.396 | N | 0.657 | neutral | None | None | None | None | N |
| A/K | 0.3131 | likely_benign | 0.3386 | benign | -0.734 | Destabilizing | 0.157 | N | 0.577 | neutral | None | None | None | None | N |
| A/L | 0.1764 | likely_benign | 0.1927 | benign | -0.325 | Destabilizing | 0.157 | N | 0.583 | neutral | None | None | None | None | N |
| A/M | 0.2032 | likely_benign | 0.2242 | benign | -0.333 | Destabilizing | 0.909 | D | 0.64 | neutral | None | None | None | None | N |
| A/N | 0.2255 | likely_benign | 0.2467 | benign | -0.433 | Destabilizing | 0.396 | N | 0.655 | neutral | None | None | None | None | N |
| A/P | 0.5877 | likely_pathogenic | 0.6265 | pathogenic | -0.372 | Destabilizing | 0.667 | D | 0.652 | neutral | N | 0.518208444 | None | None | N |
| A/Q | 0.2449 | likely_benign | 0.2565 | benign | -0.639 | Destabilizing | 0.011 | N | 0.465 | neutral | None | None | None | None | N |
| A/R | 0.2564 | likely_benign | 0.2686 | benign | -0.4 | Destabilizing | 0.396 | N | 0.652 | neutral | None | None | None | None | N |
| A/S | 0.0842 | likely_benign | 0.0882 | benign | -0.807 | Destabilizing | 0.124 | N | 0.557 | neutral | N | 0.475144604 | None | None | N |
| A/T | 0.0861 | likely_benign | 0.0943 | benign | -0.801 | Destabilizing | 0.001 | N | 0.263 | neutral | D | 0.527595009 | None | None | N |
| A/V | 0.1236 | likely_benign | 0.1313 | benign | -0.372 | Destabilizing | 0.124 | N | 0.486 | neutral | N | 0.505838181 | None | None | N |
| A/W | 0.6092 | likely_pathogenic | 0.6324 | pathogenic | -1.142 | Destabilizing | 0.968 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.3584 | ambiguous | 0.3878 | ambiguous | -0.754 | Destabilizing | 0.726 | D | 0.723 | prob.delet. | 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.