Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31075 | 93448;93449;93450 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| N2AB | 29434 | 88525;88526;88527 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| N2A | 28507 | 85744;85745;85746 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| N2B | 22010 | 66253;66254;66255 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| Novex-1 | 22135 | 66628;66629;66630 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| Novex-2 | 22202 | 66829;66830;66831 | chr2:178548403;178548402;178548401 | chr2:179413130;179413129;179413128 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs956327300  |
-0.818 | None | N | 0.113 | 0.079 | 0.286848849266 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/I | rs956327300 |
-0.818 | None | N | 0.113 | 0.079 | 0.286848849266 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/I | rs956327300 |
-0.818 | None | N | 0.113 | 0.079 | 0.286848849266 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs956327300 |
-0.82 | None | N | 0.101 | 0.072 | 0.433157607263 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| F/L | rs956327300 |
-0.82 | None | N | 0.101 | 0.072 | 0.433157607263 | gnomAD-4.0.0 | 1.02628E-05 | None | None | None | None | N | None | 2.98721E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16929E-05 | 0 | 1.6564E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.322 | likely_benign | 0.3437 | ambiguous | -2.19 | Highly Destabilizing | None | N | 0.354 | neutral | None | None | None | None | N |
| F/C | 0.1409 | likely_benign | 0.1559 | benign | -1.408 | Destabilizing | 0.196 | N | 0.531 | neutral | N | 0.483734297 | None | None | N |
| F/D | 0.8219 | likely_pathogenic | 0.8301 | pathogenic | -1.564 | Destabilizing | 0.085 | N | 0.536 | neutral | None | None | None | None | N |
| F/E | 0.7634 | likely_pathogenic | 0.7635 | pathogenic | -1.394 | Destabilizing | 0.044 | N | 0.517 | neutral | None | None | None | None | N |
| F/G | 0.5904 | likely_pathogenic | 0.6305 | pathogenic | -2.584 | Highly Destabilizing | 0.009 | N | 0.421 | neutral | None | None | None | None | N |
| F/H | 0.3393 | likely_benign | 0.3476 | ambiguous | -0.835 | Destabilizing | 0.497 | N | 0.462 | neutral | None | None | None | None | N |
| F/I | 0.1037 | likely_benign | 0.1172 | benign | -0.955 | Destabilizing | None | N | 0.113 | neutral | N | 0.518057514 | None | None | N |
| F/K | 0.6931 | likely_pathogenic | 0.6935 | pathogenic | -1.696 | Destabilizing | 0.044 | N | 0.499 | neutral | None | None | None | None | N |
| F/L | 0.199 | likely_benign | 0.2274 | benign | -0.955 | Destabilizing | None | N | 0.101 | neutral | N | 0.510206035 | None | None | N |
| F/M | 0.173 | likely_benign | 0.186 | benign | -0.742 | Destabilizing | 0.074 | N | 0.399 | neutral | None | None | None | None | N |
| F/N | 0.5898 | likely_pathogenic | 0.6109 | pathogenic | -2.061 | Highly Destabilizing | 0.085 | N | 0.611 | neutral | None | None | None | None | N |
| F/P | 0.9589 | likely_pathogenic | 0.967 | pathogenic | -1.368 | Destabilizing | None | N | 0.454 | neutral | None | None | None | None | N |
| F/Q | 0.4921 | ambiguous | 0.5007 | ambiguous | -1.979 | Destabilizing | 0.245 | N | 0.601 | neutral | None | None | None | None | N |
| F/R | 0.5235 | ambiguous | 0.527 | ambiguous | -1.215 | Destabilizing | 0.085 | N | 0.566 | neutral | None | None | None | None | N |
| F/S | 0.3458 | ambiguous | 0.3623 | ambiguous | -2.796 | Highly Destabilizing | 0.007 | N | 0.418 | neutral | N | 0.48969053 | None | None | N |
| F/T | 0.3309 | likely_benign | 0.3722 | ambiguous | -2.522 | Highly Destabilizing | 0.018 | N | 0.403 | neutral | None | None | None | None | N |
| F/V | 0.0991 | likely_benign | 0.1047 | benign | -1.368 | Destabilizing | 0.001 | N | 0.317 | neutral | N | 0.464235079 | None | None | N |
| F/W | 0.2279 | likely_benign | 0.242 | benign | 0.042 | Stabilizing | 0.788 | D | 0.433 | neutral | None | None | None | None | N |
| F/Y | 0.1171 | likely_benign | 0.1144 | benign | -0.297 | Destabilizing | 0.065 | N | 0.375 | neutral | N | 0.415639649 | 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.