Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9503 | 28732;28733;28734 | chr2:178709812;178709811;178709810 | chr2:179574539;179574538;179574537 |
| N2AB | 9186 | 27781;27782;27783 | chr2:178709812;178709811;178709810 | chr2:179574539;179574538;179574537 |
| N2A | 8259 | 25000;25001;25002 | chr2:178709812;178709811;178709810 | chr2:179574539;179574538;179574537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.165 | None | 0.333 | 0.329 | 0.568572517066 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs202160275  |
-0.111 | 0.001 | None | 0.077 | 0.122 | None | gnomAD-2.1.1 | 3.42705E-04 | None | None | None | None | I | None | 0 | 6.79079E-04 | None | 4.34783E-03 | 0 | None | 6.54E-05 | None | 0 | 1.79334E-04 | 2.80899E-04 |
| V/I | rs202160275 |
-0.111 | 0.001 | None | 0.077 | 0.122 | None | gnomAD-3.1.2 | 2.7604E-04 | None | None | None | None | I | None | 2.41E-05 | 3.92876E-04 | 0 | 4.6083E-03 | 0 | None | 0 | 0 | 2.4986E-04 | 2.06954E-04 | 4.78469E-04 |
| V/I | rs202160275 |
-0.111 | 0.001 | None | 0.077 | 0.122 | None | gnomAD-4.0.0 | 2.38629E-04 | None | None | None | None | I | None | 2.67044E-05 | 5.1677E-04 | None | 4.59428E-03 | 0 | None | 0 | 6.25E-03 | 1.15273E-04 | 5.48992E-05 | 5.92379E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.219 | likely_benign | 0.1561 | benign | -1.354 | Destabilizing | 0.165 | N | 0.333 | neutral | None | None | None | None | I |
| V/C | 0.8647 | likely_pathogenic | 0.8062 | pathogenic | -1.337 | Destabilizing | 0.981 | D | 0.319 | neutral | None | None | None | None | I |
| V/D | 0.6674 | likely_pathogenic | 0.5364 | ambiguous | -0.495 | Destabilizing | 0.818 | D | 0.448 | neutral | None | None | None | None | I |
| V/E | 0.4203 | ambiguous | 0.3173 | benign | -0.434 | Destabilizing | 0.912 | D | 0.416 | neutral | None | None | None | None | I |
| V/F | 0.2279 | likely_benign | 0.1738 | benign | -0.889 | Destabilizing | 0.69 | D | 0.349 | neutral | None | None | None | None | I |
| V/G | 0.4529 | ambiguous | 0.336 | benign | -1.727 | Destabilizing | 0.773 | D | 0.432 | neutral | None | None | None | None | I |
| V/H | 0.7155 | likely_pathogenic | 0.5978 | pathogenic | -1.216 | Destabilizing | 0.981 | D | 0.427 | neutral | None | None | None | None | I |
| V/I | 0.0721 | likely_benign | 0.0687 | benign | -0.415 | Destabilizing | 0.001 | N | 0.077 | neutral | None | None | None | None | I |
| V/K | 0.4439 | ambiguous | 0.3351 | benign | -0.975 | Destabilizing | 0.818 | D | 0.399 | neutral | None | None | None | None | I |
| V/L | 0.2142 | likely_benign | 0.1723 | benign | -0.415 | Destabilizing | 0.001 | N | 0.083 | neutral | None | None | None | None | I |
| V/M | 0.1322 | likely_benign | 0.1098 | benign | -0.608 | Destabilizing | 0.054 | N | 0.314 | neutral | None | None | None | None | I |
| V/N | 0.4964 | ambiguous | 0.3786 | ambiguous | -0.902 | Destabilizing | 0.932 | D | 0.436 | neutral | None | None | None | None | I |
| V/P | 0.9569 | likely_pathogenic | 0.8962 | pathogenic | -0.692 | Destabilizing | 0.932 | D | 0.408 | neutral | None | None | None | None | I |
| V/Q | 0.42 | ambiguous | 0.3188 | benign | -0.921 | Destabilizing | 0.818 | D | 0.397 | neutral | None | None | None | None | I |
| V/R | 0.3939 | ambiguous | 0.2929 | benign | -0.695 | Destabilizing | 0.818 | D | 0.438 | neutral | None | None | None | None | I |
| V/S | 0.3513 | ambiguous | 0.2523 | benign | -1.621 | Destabilizing | 0.818 | D | 0.416 | neutral | None | None | None | None | I |
| V/T | 0.1923 | likely_benign | 0.1445 | benign | -1.415 | Destabilizing | 0.388 | N | 0.309 | neutral | None | None | None | None | I |
| V/W | 0.8707 | likely_pathogenic | 0.7868 | pathogenic | -1.044 | Destabilizing | 0.981 | D | 0.534 | neutral | None | None | None | None | I |
| V/Y | 0.7069 | likely_pathogenic | 0.5889 | pathogenic | -0.723 | Destabilizing | 0.818 | D | 0.355 | neutral | None | None | None | None | I |
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.