Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31090 | 93493;93494;93495 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| N2AB | 29449 | 88570;88571;88572 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| N2A | 28522 | 85789;85790;85791 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| N2B | 22025 | 66298;66299;66300 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| Novex-1 | 22150 | 66673;66674;66675 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| Novex-2 | 22217 | 66874;66875;66876 | chr2:178548358;178548357;178548356 | chr2:179413085;179413084;179413083 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs886044086  |
-0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs886044086 |
-0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs886044086 |
-0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8841 | likely_pathogenic | 0.841 | pathogenic | -2.6 | Highly Destabilizing | 0.996 | D | 0.605 | neutral | D | 0.560050312 | None | None | N |
| V/C | 0.962 | likely_pathogenic | 0.9481 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/D | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -3.545 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.660361564 | None | None | N |
| V/E | 0.9962 | likely_pathogenic | 0.9945 | pathogenic | -3.239 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/F | 0.8708 | likely_pathogenic | 0.8691 | pathogenic | -1.473 | Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.589510872 | None | None | N |
| V/G | 0.948 | likely_pathogenic | 0.921 | pathogenic | -3.175 | Highly Destabilizing | 0.999 | D | 0.885 | deleterious | D | 0.660361564 | None | None | N |
| V/H | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/I | 0.096 | likely_benign | 0.1079 | benign | -0.915 | Destabilizing | 0.981 | D | 0.567 | neutral | D | 0.539855017 | None | None | N |
| V/K | 0.9971 | likely_pathogenic | 0.9957 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/L | 0.6745 | likely_pathogenic | 0.6777 | pathogenic | -0.915 | Destabilizing | 0.981 | D | 0.501 | neutral | D | 0.537890224 | None | None | N |
| V/M | 0.7486 | likely_pathogenic | 0.7474 | pathogenic | -1.165 | Destabilizing | 0.985 | D | 0.455 | neutral | None | None | None | None | N |
| V/N | 0.9943 | likely_pathogenic | 0.9916 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/P | 0.9971 | likely_pathogenic | 0.9958 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/Q | 0.995 | likely_pathogenic | 0.9926 | pathogenic | -2.499 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/R | 0.9943 | likely_pathogenic | 0.9912 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/S | 0.9754 | likely_pathogenic | 0.9641 | pathogenic | -3.316 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/T | 0.9296 | likely_pathogenic | 0.907 | pathogenic | -2.866 | Highly Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | N |
| V/W | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Y | 0.9914 | likely_pathogenic | 0.9889 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.8 | 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.