Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5577 | 16954;16955;16956 | chr2:178732240;178732239;178732238 | chr2:179596967;179596966;179596965 |
| N2AB | 5260 | 16003;16004;16005 | chr2:178732240;178732239;178732238 | chr2:179596967;179596966;179596965 |
| N2A | 4333 | 13222;13223;13224 | chr2:178732240;178732239;178732238 | chr2:179596967;179596966;179596965 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1194619992  |
-2.138 | 1.0 | D | 0.861 | 0.895 | 0.956656731583 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs1194619992 |
-2.138 | 1.0 | D | 0.861 | 0.895 | 0.956656731583 | 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 |
| W/R | rs1194619992 |
-2.138 | 1.0 | D | 0.861 | 0.895 | 0.956656731583 | gnomAD-4.0.0 | 1.8591E-06 | None | None | None | None | N | None | 2.66987E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47614E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9779 | likely_pathogenic | 0.9836 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/C | 0.9804 | likely_pathogenic | 0.9877 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.718620484 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.569 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.456 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/F | 0.5064 | ambiguous | 0.5313 | ambiguous | -1.936 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/G | 0.9528 | likely_pathogenic | 0.9635 | pathogenic | -3.339 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.718418679 | None | None | N |
| W/H | 0.9934 | likely_pathogenic | 0.9946 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/I | 0.9209 | likely_pathogenic | 0.9297 | pathogenic | -2.215 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/L | 0.8368 | likely_pathogenic | 0.8669 | pathogenic | -2.215 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.702167154 | None | None | N |
| W/M | 0.9643 | likely_pathogenic | 0.9733 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| W/N | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -3.205 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/P | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/R | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.718620484 | None | None | N |
| W/S | 0.9766 | likely_pathogenic | 0.9821 | pathogenic | -3.305 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.718620484 | None | None | N |
| W/T | 0.9836 | likely_pathogenic | 0.9873 | pathogenic | -3.119 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/V | 0.8997 | likely_pathogenic | 0.9161 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/Y | 0.8189 | likely_pathogenic | 0.8398 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.8 | 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.