Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14333 | 43222;43223;43224 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| N2AB | 12692 | 38299;38300;38301 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| N2A | 11765 | 35518;35519;35520 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| N2B | 5268 | 16027;16028;16029 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| Novex-1 | 5393 | 16402;16403;16404 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| Novex-2 | 5460 | 16603;16604;16605 | chr2:178633276;178633275;178633274 | chr2:179498003;179498002;179498001 |
| 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 | None | None | 0.999 | N | 0.682 | 0.402 | 0.542144099713 | gnomAD-4.0.0 | 6.84402E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1598E-05 | 0 |
| G/S | rs773910732  |
-1.151 | 0.999 | N | 0.713 | 0.408 | 0.318828661733 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/S | rs773910732 |
-1.151 | 0.999 | N | 0.713 | 0.408 | 0.318828661733 | gnomAD-4.0.0 | 2.05321E-06 | None | None | None | None | N | None | 2.99168E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99664E-07 | 0 | 1.65722E-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 | 0.6229 | likely_pathogenic | 0.6451 | pathogenic | -0.586 | Destabilizing | 0.998 | D | 0.63 | neutral | D | 0.550959495 | None | None | N |
| G/C | 0.7679 | likely_pathogenic | 0.7724 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.577340784 | None | None | N |
| G/D | 0.4863 | ambiguous | 0.5182 | ambiguous | -1.243 | Destabilizing | 1.0 | D | 0.685 | prob.delet. | D | 0.547372712 | None | None | N |
| G/E | 0.6407 | likely_pathogenic | 0.6938 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.701 | prob.delet. | None | None | None | None | N |
| G/F | 0.9606 | likely_pathogenic | 0.9615 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.8583 | likely_pathogenic | 0.8715 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/I | 0.967 | likely_pathogenic | 0.9719 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.8185 | likely_pathogenic | 0.8578 | pathogenic | -1.086 | Destabilizing | 0.981 | D | 0.586 | neutral | None | None | None | None | N |
| G/L | 0.9236 | likely_pathogenic | 0.9301 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/M | 0.9488 | likely_pathogenic | 0.9517 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/N | 0.6098 | likely_pathogenic | 0.6231 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.697 | prob.delet. | None | None | None | None | N |
| G/P | 0.9918 | likely_pathogenic | 0.9912 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/Q | 0.7897 | likely_pathogenic | 0.8159 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/R | 0.7017 | likely_pathogenic | 0.7579 | pathogenic | -0.529 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | N | 0.485575575 | None | None | N |
| G/S | 0.3595 | ambiguous | 0.3743 | ambiguous | -0.826 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.483671251 | None | None | N |
| G/T | 0.7534 | likely_pathogenic | 0.7664 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/V | 0.9253 | likely_pathogenic | 0.9347 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.727 | deleterious | D | 0.616441181 | None | None | N |
| G/W | 0.8755 | likely_pathogenic | 0.8888 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| G/Y | 0.9105 | likely_pathogenic | 0.9182 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.821 | 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.