Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23378 | 70357;70358;70359 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| N2AB | 21737 | 65434;65435;65436 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| N2A | 20810 | 62653;62654;62655 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| N2B | 14313 | 43162;43163;43164 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| Novex-1 | 14438 | 43537;43538;43539 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| Novex-2 | 14505 | 43738;43739;43740 | chr2:178576000;178575999;178575998 | chr2:179440727;179440726;179440725 |
| 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 | rs1709952392  |
None | 1.0 | D | 0.873 | 0.926 | 0.93566570447 | gnomAD-4.0.0 | 6.84881E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00354E-07 | 0 | 0 |
| W/S | rs1172742481 |
-3.417 | 1.0 | D | 0.859 | 0.91 | 0.960894019804 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/S | rs1172742481 |
-3.417 | 1.0 | D | 0.859 | 0.91 | 0.960894019804 | gnomAD-4.0.0 | 1.59514E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.7719E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -3.193 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/C | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.677295176 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.232 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.104 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/F | 0.7372 | likely_pathogenic | 0.7236 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/G | 0.9929 | likely_pathogenic | 0.995 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.677093371 | None | None | N |
| W/H | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/I | 0.9826 | likely_pathogenic | 0.9835 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/L | 0.9678 | likely_pathogenic | 0.9703 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.677093371 | None | None | N |
| W/M | 0.9926 | likely_pathogenic | 0.9931 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.48 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.262 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.534 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.677295176 | None | None | N |
| W/S | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -3.716 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.677295176 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -3.517 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/V | 0.987 | likely_pathogenic | 0.9886 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/Y | 0.9548 | likely_pathogenic | 0.9541 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.804 | 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.