Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35307 | 106144;106145;106146 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| N2AB | 33666 | 101221;101222;101223 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| N2A | 32739 | 98440;98441;98442 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| N2B | 26242 | 78949;78950;78951 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| Novex-1 | 26367 | 79324;79325;79326 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| Novex-2 | 26434 | 79525;79526;79527 | chr2:178530696;178530695;178530694 | chr2:179395423;179395422;179395421 |
| 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/A | rs780629996  |
-2.259 | 0.025 | N | 0.341 | 0.327 | 0.531629458225 | gnomAD-2.1.1 | 9.64E-05 | None | None | None | None | N | None | 0 | 6.0866E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 1.65563E-04 |
| V/A | rs780629996 |
-2.259 | 0.025 | N | 0.341 | 0.327 | 0.531629458225 | gnomAD-3.1.2 | 1.77494E-04 | None | None | None | None | N | None | 0 | 1.70224E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs780629996 |
-2.259 | 0.025 | N | 0.341 | 0.327 | 0.531629458225 | gnomAD-4.0.0 | 5.20511E-05 | None | None | None | None | N | None | 0 | 9.33427E-04 | None | 0 | 0 | None | 0 | 0 | 2.11886E-05 | 1.09794E-05 | 3.20174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1726 | likely_benign | 0.169 | benign | -1.922 | Destabilizing | 0.025 | N | 0.341 | neutral | N | 0.514020784 | None | None | N |
| V/C | 0.8833 | likely_pathogenic | 0.885 | pathogenic | -1.686 | Destabilizing | 0.018 | N | 0.454 | neutral | None | None | None | None | N |
| V/D | 0.8623 | likely_pathogenic | 0.8343 | pathogenic | -2.35 | Highly Destabilizing | 0.97 | D | 0.826 | deleterious | D | 0.588783413 | None | None | N |
| V/E | 0.7583 | likely_pathogenic | 0.7041 | pathogenic | -2.203 | Highly Destabilizing | 0.977 | D | 0.794 | deleterious | None | None | None | None | N |
| V/F | 0.4039 | ambiguous | 0.3883 | ambiguous | -1.223 | Destabilizing | 0.99 | D | 0.791 | deleterious | D | 0.581243421 | None | None | N |
| V/G | 0.3995 | ambiguous | 0.3699 | ambiguous | -2.393 | Highly Destabilizing | 0.692 | D | 0.777 | deleterious | D | 0.566031277 | None | None | N |
| V/H | 0.9376 | likely_pathogenic | 0.9273 | pathogenic | -2.073 | Highly Destabilizing | 0.998 | D | 0.818 | deleterious | None | None | None | None | N |
| V/I | 0.1169 | likely_benign | 0.1181 | benign | -0.649 | Destabilizing | 0.79 | D | 0.623 | neutral | N | 0.494920538 | None | None | N |
| V/K | 0.8541 | likely_pathogenic | 0.8222 | pathogenic | -1.561 | Destabilizing | 0.954 | D | 0.801 | deleterious | None | None | None | None | N |
| V/L | 0.3713 | ambiguous | 0.3613 | ambiguous | -0.649 | Destabilizing | 0.649 | D | 0.593 | neutral | D | 0.535890951 | None | None | N |
| V/M | 0.2709 | likely_benign | 0.2577 | benign | -0.784 | Destabilizing | 0.992 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/N | 0.7714 | likely_pathogenic | 0.7461 | pathogenic | -1.716 | Destabilizing | 0.992 | D | 0.832 | deleterious | None | None | None | None | N |
| V/P | 0.8749 | likely_pathogenic | 0.8344 | pathogenic | -1.043 | Destabilizing | 0.977 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Q | 0.7987 | likely_pathogenic | 0.7681 | pathogenic | -1.682 | Destabilizing | 0.992 | D | 0.805 | deleterious | None | None | None | None | N |
| V/R | 0.801 | likely_pathogenic | 0.7719 | pathogenic | -1.292 | Destabilizing | 0.977 | D | 0.831 | deleterious | None | None | None | None | N |
| V/S | 0.3821 | ambiguous | 0.3724 | ambiguous | -2.335 | Highly Destabilizing | 0.748 | D | 0.751 | deleterious | None | None | None | None | N |
| V/T | 0.199 | likely_benign | 0.1963 | benign | -2.054 | Highly Destabilizing | 0.856 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/W | 0.9601 | likely_pathogenic | 0.9519 | pathogenic | -1.634 | Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| V/Y | 0.8981 | likely_pathogenic | 0.8806 | pathogenic | -1.274 | Destabilizing | 0.992 | D | 0.785 | 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.