Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32165 | 96718;96719;96720 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| N2AB | 30524 | 91795;91796;91797 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| N2A | 29597 | 89014;89015;89016 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| N2B | 23100 | 69523;69524;69525 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| Novex-1 | 23225 | 69898;69899;69900 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| Novex-2 | 23292 | 70099;70100;70101 | chr2:178543480;178543479;178543478 | chr2:179408207;179408206;179408205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs768216478  |
-1.117 | 1.0 | N | 0.706 | 0.444 | 0.489449420884 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| R/G | rs768216478 |
-1.117 | 1.0 | N | 0.706 | 0.444 | 0.489449420884 | gnomAD-4.0.0 | 4.10541E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 1.79895E-06 | 3.47802E-05 | 0 |
| R/T | None | None | 1.0 | N | 0.749 | 0.407 | 0.51196500227 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7086 | likely_pathogenic | 0.566 | pathogenic | -0.9 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| R/C | 0.2543 | likely_benign | 0.1886 | benign | -0.944 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| R/D | 0.8902 | likely_pathogenic | 0.8177 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/E | 0.6481 | likely_pathogenic | 0.5214 | ambiguous | 0.007 | Stabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| R/F | 0.8203 | likely_pathogenic | 0.7035 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/G | 0.5938 | likely_pathogenic | 0.442 | ambiguous | -1.141 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.473926452 | None | None | N |
| R/H | 0.1337 | likely_benign | 0.1045 | benign | -1.52 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| R/I | 0.4951 | ambiguous | 0.3888 | ambiguous | -0.27 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.50175991 | None | None | N |
| R/K | 0.1197 | likely_benign | 0.1031 | benign | -0.834 | Destabilizing | 0.997 | D | 0.523 | neutral | N | 0.424645921 | None | None | N |
| R/L | 0.4818 | ambiguous | 0.3682 | ambiguous | -0.27 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/M | 0.5445 | ambiguous | 0.4174 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/N | 0.7934 | likely_pathogenic | 0.6795 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| R/P | 0.8338 | likely_pathogenic | 0.7462 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/Q | 0.1519 | likely_benign | 0.12 | benign | -0.583 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/S | 0.7566 | likely_pathogenic | 0.6212 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.474554666 | None | None | N |
| R/T | 0.4211 | ambiguous | 0.2941 | benign | -0.874 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.425352423 | None | None | N |
| R/V | 0.5307 | ambiguous | 0.4229 | ambiguous | -0.461 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/W | 0.3766 | ambiguous | 0.2696 | benign | -0.777 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| R/Y | 0.6147 | likely_pathogenic | 0.4918 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.793 | 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.