Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19055 | 57388;57389;57390 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| N2AB | 17414 | 52465;52466;52467 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| N2A | 16487 | 49684;49685;49686 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| N2B | 9990 | 30193;30194;30195 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| Novex-1 | 10115 | 30568;30569;30570 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| Novex-2 | 10182 | 30769;30770;30771 | chr2:178598007;178598006;178598005 | chr2:179462734;179462733;179462732 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1263660973  |
-0.271 | 0.998 | N | 0.545 | 0.27 | 0.344017737713 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs1263660973 |
-0.271 | 0.998 | N | 0.545 | 0.27 | 0.344017737713 | 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 |
| E/D | rs1263660973 |
-0.271 | 0.998 | N | 0.545 | 0.27 | 0.344017737713 | gnomAD-4.0.0 | 6.84367E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99616E-07 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.669 | 0.321 | 0.346315397577 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1134 | likely_benign | 0.131 | benign | -0.513 | Destabilizing | 0.767 | D | 0.285 | neutral | N | 0.469758942 | None | None | N |
| E/C | 0.8466 | likely_pathogenic | 0.8773 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/D | 0.2064 | likely_benign | 0.237 | benign | -0.387 | Destabilizing | 0.998 | D | 0.545 | neutral | N | 0.486968279 | None | None | N |
| E/F | 0.8617 | likely_pathogenic | 0.8917 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| E/G | 0.2058 | likely_benign | 0.2476 | benign | -0.708 | Destabilizing | 0.996 | D | 0.557 | neutral | N | 0.503844766 | None | None | N |
| E/H | 0.6211 | likely_pathogenic | 0.6677 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| E/I | 0.4168 | ambiguous | 0.4476 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/K | 0.2222 | likely_benign | 0.2252 | benign | 0.341 | Stabilizing | 0.998 | D | 0.603 | neutral | N | 0.472293837 | None | None | N |
| E/L | 0.5006 | ambiguous | 0.5364 | ambiguous | -0.032 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| E/M | 0.5094 | ambiguous | 0.5302 | ambiguous | 0.186 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| E/N | 0.3262 | likely_benign | 0.3765 | ambiguous | 0.018 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| E/P | 0.2588 | likely_benign | 0.2958 | benign | -0.173 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| E/Q | 0.1641 | likely_benign | 0.1719 | benign | 0.038 | Stabilizing | 1.0 | D | 0.669 | neutral | N | 0.468597308 | None | None | N |
| E/R | 0.3806 | ambiguous | 0.3915 | ambiguous | 0.465 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| E/S | 0.2125 | likely_benign | 0.2489 | benign | -0.138 | Destabilizing | 0.994 | D | 0.571 | neutral | None | None | None | None | N |
| E/T | 0.2159 | likely_benign | 0.2344 | benign | 0.024 | Stabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | N |
| E/V | 0.2329 | likely_benign | 0.2512 | benign | -0.173 | Destabilizing | 0.999 | D | 0.576 | neutral | N | 0.485487021 | None | None | N |
| E/W | 0.9484 | likely_pathogenic | 0.9647 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/Y | 0.7684 | likely_pathogenic | 0.8107 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.659 | neutral | 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.