Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32135 | 96628;96629;96630 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| N2AB | 30494 | 91705;91706;91707 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| N2A | 29567 | 88924;88925;88926 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| N2B | 23070 | 69433;69434;69435 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| Novex-1 | 23195 | 69808;69809;69810 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| Novex-2 | 23262 | 70009;70010;70011 | chr2:178543570;178543569;178543568 | chr2:179408297;179408296;179408295 |
| 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/D | rs1363575926  |
None | 1.0 | N | 0.851 | 0.393 | 0.559044820595 | 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 |
| A/D | rs1363575926 |
None | 1.0 | N | 0.851 | 0.393 | 0.559044820595 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 2.41243E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6057 | likely_pathogenic | 0.5957 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.8722 | likely_pathogenic | 0.8566 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.502530701 | None | None | N |
| A/E | 0.8791 | likely_pathogenic | 0.8626 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/F | 0.6736 | likely_pathogenic | 0.649 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/G | 0.4105 | ambiguous | 0.3702 | ambiguous | -1.083 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.484747443 | None | None | N |
| A/H | 0.8252 | likely_pathogenic | 0.8265 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/I | 0.7321 | likely_pathogenic | 0.716 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/K | 0.9548 | likely_pathogenic | 0.9457 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/L | 0.5322 | ambiguous | 0.4899 | ambiguous | -0.385 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.5277 | ambiguous | 0.5146 | ambiguous | -0.295 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/N | 0.7279 | likely_pathogenic | 0.7069 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/P | 0.9891 | likely_pathogenic | 0.9859 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.499641257 | None | None | N |
| A/Q | 0.8013 | likely_pathogenic | 0.7878 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/R | 0.9234 | likely_pathogenic | 0.9071 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/S | 0.1208 | likely_benign | 0.116 | benign | -1.059 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.396920602 | None | None | N |
| A/T | 0.3119 | likely_benign | 0.3064 | benign | -1.014 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.489044116 | None | None | N |
| A/V | 0.4322 | ambiguous | 0.4188 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.510515466 | None | None | N |
| A/W | 0.9545 | likely_pathogenic | 0.9514 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/Y | 0.8126 | likely_pathogenic | 0.799 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.858 | 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.