Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33658 | 101197;101198;101199 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| N2AB | 32017 | 96274;96275;96276 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| N2A | 31090 | 93493;93494;93495 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| N2B | 24593 | 74002;74003;74004 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| Novex-1 | 24718 | 74377;74378;74379 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| Novex-2 | 24785 | 74578;74579;74580 | chr2:178535643;178535642;178535641 | chr2:179400370;179400369;179400368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs780484535  |
-1.375 | 1.0 | N | 0.847 | 0.517 | 0.511503663882 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30727E-04 | None | 0 | 0 | 0 |
| G/R | rs780484535 |
-1.375 | 1.0 | N | 0.847 | 0.517 | 0.511503663882 | gnomAD-4.0.0 | 9.57908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59789E-06 | 9.27579E-05 | 3.31301E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4126 | ambiguous | 0.3311 | benign | -0.827 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.484030659 | None | None | N |
| G/C | 0.7117 | likely_pathogenic | 0.5606 | ambiguous | -1.056 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/D | 0.8748 | likely_pathogenic | 0.7677 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/E | 0.8474 | likely_pathogenic | 0.7215 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.461865876 | None | None | N |
| G/F | 0.9588 | likely_pathogenic | 0.9322 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/H | 0.8989 | likely_pathogenic | 0.8253 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.9151 | likely_pathogenic | 0.8338 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/K | 0.9179 | likely_pathogenic | 0.8283 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/L | 0.9328 | likely_pathogenic | 0.8824 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.9405 | likely_pathogenic | 0.8941 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/N | 0.8219 | likely_pathogenic | 0.7371 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.9871 | likely_pathogenic | 0.9738 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/Q | 0.8434 | likely_pathogenic | 0.7474 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/R | 0.8029 | likely_pathogenic | 0.6852 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.492015424 | None | None | N |
| G/S | 0.363 | ambiguous | 0.2917 | benign | -1.423 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/T | 0.7182 | likely_pathogenic | 0.5644 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.8267 | likely_pathogenic | 0.7129 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.503483212 | None | None | N |
| G/W | 0.9352 | likely_pathogenic | 0.8864 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.523205123 | None | None | N |
| G/Y | 0.9211 | likely_pathogenic | 0.8661 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.829 | 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.