Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18023 | 54292;54293;54294 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| N2AB | 16382 | 49369;49370;49371 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| N2A | 15455 | 46588;46589;46590 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| N2B | 8958 | 27097;27098;27099 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| Novex-1 | 9083 | 27472;27473;27474 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| Novex-2 | 9150 | 27673;27674;27675 | chr2:178605110;178605109;178605108 | chr2:179469837;179469836;179469835 |
| 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/P | None | None | 1.0 | N | 0.769 | 0.3 | 0.283371740733 | gnomAD-4.0.0 | 6.84601E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99868E-07 | 0 | 0 |
| R/Q | rs727503603  |
-1.61 | 1.0 | N | 0.773 | 0.213 | 0.209622950755 | gnomAD-2.1.1 | 1.54229E-04 | None | None | None | None | N | None | 1.24254E-04 | 4.81614E-04 | None | 0 | 0 | None | 4.9042E-04 | None | 0 | 5.51E-05 | 1.40766E-04 |
| R/Q | rs727503603 |
-1.61 | 1.0 | N | 0.773 | 0.213 | 0.209622950755 | gnomAD-3.1.2 | 9.22E-05 | None | None | None | None | N | None | 4.83E-05 | 3.28127E-04 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 2.07641E-04 | 0 |
| R/Q | rs727503603 |
-1.61 | 1.0 | N | 0.773 | 0.213 | 0.209622950755 | gnomAD-4.0.0 | 9.85983E-05 | None | None | None | None | N | None | 8.02225E-05 | 3.83832E-04 | None | 0 | 0 | None | 0 | 1.6469E-04 | 6.52985E-05 | 5.38308E-04 | 4.80677E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8671 | likely_pathogenic | 0.8142 | pathogenic | -0.036 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| R/C | 0.7293 | likely_pathogenic | 0.6214 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/D | 0.915 | likely_pathogenic | 0.8853 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/E | 0.7931 | likely_pathogenic | 0.7454 | pathogenic | -0.137 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/F | 0.9192 | likely_pathogenic | 0.8827 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/G | 0.8017 | likely_pathogenic | 0.7105 | pathogenic | -0.164 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.504538352 | None | None | N |
| R/H | 0.3952 | ambiguous | 0.3128 | benign | -0.6 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/I | 0.7673 | likely_pathogenic | 0.7089 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/K | 0.3816 | ambiguous | 0.318 | benign | -0.163 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| R/L | 0.6893 | likely_pathogenic | 0.6243 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.460207883 | None | None | N |
| R/M | 0.8508 | likely_pathogenic | 0.7952 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/N | 0.9097 | likely_pathogenic | 0.8665 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| R/P | 0.7764 | likely_pathogenic | 0.7221 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.769 | deleterious | N | 0.451132984 | None | None | N |
| R/Q | 0.4046 | ambiguous | 0.3298 | benign | -0.122 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.504885068 | None | None | N |
| R/S | 0.8974 | likely_pathogenic | 0.8499 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/T | 0.8342 | likely_pathogenic | 0.7689 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/V | 0.8289 | likely_pathogenic | 0.7712 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/W | 0.6303 | likely_pathogenic | 0.5447 | ambiguous | -0.559 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/Y | 0.8249 | likely_pathogenic | 0.7584 | pathogenic | -0.147 | 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.