Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31872 | 95839;95840;95841 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| N2AB | 30231 | 90916;90917;90918 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| N2A | 29304 | 88135;88136;88137 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| N2B | 22807 | 68644;68645;68646 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| Novex-1 | 22932 | 69019;69020;69021 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| Novex-2 | 22999 | 69220;69221;69222 | chr2:178545496;178545495;178545494 | chr2:179410223;179410222;179410221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | None | N | 0.089 | 0.071 | 0.0297737177859 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 0 |
| S/R | rs757129504  |
0.091 | 0.055 | N | 0.452 | 0.052 | 0.19670166235 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| S/R | rs757129504 |
0.091 | 0.055 | N | 0.452 | 0.052 | 0.19670166235 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs757129504 |
0.091 | 0.055 | N | 0.452 | 0.052 | 0.19670166235 | gnomAD-4.0.0 | 6.01193E-05 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.96871E-05 | 0 | 3.20266E-05 |
| S/T | rs1696652076 |
None | 0.024 | N | 0.336 | 0.08 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| S/T | rs1696652076 |
None | 0.024 | N | 0.336 | 0.08 | 0.0666544352282 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0862 | likely_benign | 0.0882 | benign | -0.158 | Destabilizing | 0.007 | N | 0.26 | neutral | None | None | None | None | N |
| S/C | 0.0888 | likely_benign | 0.0894 | benign | -0.35 | Destabilizing | 0.828 | D | 0.377 | neutral | N | 0.466876546 | None | None | N |
| S/D | 0.3093 | likely_benign | 0.3241 | benign | 0.037 | Stabilizing | None | N | 0.131 | neutral | None | None | None | None | N |
| S/E | 0.4885 | ambiguous | 0.4933 | ambiguous | -0.059 | Destabilizing | 0.016 | N | 0.317 | neutral | None | None | None | None | N |
| S/F | 0.3415 | ambiguous | 0.3346 | benign | -0.809 | Destabilizing | 0.628 | D | 0.397 | neutral | None | None | None | None | N |
| S/G | 0.0451 | likely_benign | 0.0428 | benign | -0.245 | Destabilizing | None | N | 0.089 | neutral | N | 0.279818498 | None | None | N |
| S/H | 0.2722 | likely_benign | 0.2634 | benign | -0.595 | Destabilizing | 0.214 | N | 0.391 | neutral | None | None | None | None | N |
| S/I | 0.265 | likely_benign | 0.275 | benign | -0.065 | Destabilizing | 0.295 | N | 0.439 | neutral | N | 0.466607187 | None | None | N |
| S/K | 0.5814 | likely_pathogenic | 0.5694 | pathogenic | -0.443 | Destabilizing | 0.016 | N | 0.295 | neutral | None | None | None | None | N |
| S/L | 0.1735 | likely_benign | 0.1661 | benign | -0.065 | Destabilizing | 0.072 | N | 0.383 | neutral | None | None | None | None | N |
| S/M | 0.2124 | likely_benign | 0.2132 | benign | -0.083 | Destabilizing | 0.628 | D | 0.385 | neutral | None | None | None | None | N |
| S/N | 0.0853 | likely_benign | 0.0849 | benign | -0.186 | Destabilizing | None | N | 0.127 | neutral | N | 0.340253669 | None | None | N |
| S/P | 0.5247 | ambiguous | 0.5675 | pathogenic | -0.069 | Destabilizing | 0.136 | N | 0.454 | neutral | None | None | None | None | N |
| S/Q | 0.3947 | ambiguous | 0.3852 | ambiguous | -0.404 | Destabilizing | 0.072 | N | 0.383 | neutral | None | None | None | None | N |
| S/R | 0.5362 | ambiguous | 0.5199 | ambiguous | -0.178 | Destabilizing | 0.055 | N | 0.452 | neutral | N | 0.420853467 | None | None | N |
| S/T | 0.0989 | likely_benign | 0.1055 | benign | -0.268 | Destabilizing | 0.024 | N | 0.336 | neutral | N | 0.441575456 | None | None | N |
| S/V | 0.2253 | likely_benign | 0.2331 | benign | -0.069 | Destabilizing | 0.136 | N | 0.419 | neutral | None | None | None | None | N |
| S/W | 0.4671 | ambiguous | 0.4539 | ambiguous | -0.888 | Destabilizing | 0.864 | D | 0.415 | neutral | None | None | None | None | N |
| S/Y | 0.2342 | likely_benign | 0.2316 | benign | -0.572 | Destabilizing | 0.628 | D | 0.397 | neutral | 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.