Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22205 | 66838;66839;66840 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| N2AB | 20564 | 61915;61916;61917 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| N2A | 19637 | 59134;59135;59136 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| N2B | 13140 | 39643;39644;39645 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| Novex-1 | 13265 | 40018;40019;40020 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| Novex-2 | 13332 | 40219;40220;40221 | chr2:178581655;178581654;178581653 | chr2:179446382;179446381;179446380 |
| 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/K | rs72646869  |
-1.092 | 0.021 | N | 0.176 | 0.069 | None | gnomAD-2.1.1 | 1.36236E-02 | None | None | None | None | N | None | 3.80574E-03 | 8.59428E-03 | None | 3.67861E-03 | 5.19E-05 | None | 1.86469E-03 | None | 1.83835E-02 | 2.15821E-02 | 1.40964E-02 |
| R/K | rs72646869 |
-1.092 | 0.021 | N | 0.176 | 0.069 | None | gnomAD-3.1.2 | 1.26459E-02 | None | None | None | None | N | None | 3.79099E-03 | 8.06557E-03 | 1.09649E-03 | 4.03458E-03 | 1.93874E-04 | None | 1.79076E-02 | 0 | 2.06163E-02 | 1.45409E-03 | 1.34228E-02 |
| R/K | rs72646869 |
-1.092 | 0.021 | N | 0.176 | 0.069 | None | 1000 genomes | 5.79073E-03 | None | None | None | None | N | None | 0 | 4.3E-03 | None | None | 1E-03 | 2.49E-02 | None | None | None | 0 | None |
| R/K | rs72646869 |
-1.092 | 0.021 | N | 0.176 | 0.069 | None | gnomAD-4.0.0 | 1.78606E-02 | None | None | None | None | N | None | 3.60211E-03 | 8.35947E-03 | None | 3.17847E-03 | 6.72344E-05 | None | 1.86164E-02 | 3.30469E-03 | 2.17765E-02 | 1.58197E-03 | 1.44208E-02 |
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 | 0.7099 | likely_pathogenic | 0.6941 | pathogenic | -0.528 | Destabilizing | 0.863 | D | 0.499 | neutral | None | None | None | None | N |
| R/C | 0.3718 | ambiguous | 0.3652 | ambiguous | -0.476 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| R/D | 0.9316 | likely_pathogenic | 0.9217 | pathogenic | 0.021 | Stabilizing | 0.969 | D | 0.616 | neutral | None | None | None | None | N |
| R/E | 0.7082 | likely_pathogenic | 0.6863 | pathogenic | 0.161 | Stabilizing | 0.863 | D | 0.47 | neutral | None | None | None | None | N |
| R/F | 0.8546 | likely_pathogenic | 0.8369 | pathogenic | -0.307 | Destabilizing | 0.997 | D | 0.656 | neutral | None | None | None | None | N |
| R/G | 0.7517 | likely_pathogenic | 0.7331 | pathogenic | -0.853 | Destabilizing | 0.959 | D | 0.554 | neutral | N | 0.511227542 | None | None | N |
| R/H | 0.2562 | likely_benign | 0.2474 | benign | -1.292 | Destabilizing | 0.997 | D | 0.547 | neutral | None | None | None | None | N |
| R/I | 0.4786 | ambiguous | 0.473 | ambiguous | 0.342 | Stabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | N |
| R/K | 0.1621 | likely_benign | 0.1469 | benign | -0.512 | Destabilizing | 0.021 | N | 0.176 | neutral | N | 0.407908387 | None | None | N |
| R/L | 0.4409 | ambiguous | 0.4352 | ambiguous | 0.342 | Stabilizing | 0.969 | D | 0.554 | neutral | None | None | None | None | N |
| R/M | 0.5565 | ambiguous | 0.5423 | ambiguous | -0.121 | Destabilizing | 0.996 | D | 0.615 | neutral | N | 0.496047446 | None | None | N |
| R/N | 0.8694 | likely_pathogenic | 0.8522 | pathogenic | -0.123 | Destabilizing | 0.969 | D | 0.463 | neutral | None | None | None | None | N |
| R/P | 0.5658 | likely_pathogenic | 0.5269 | ambiguous | 0.074 | Stabilizing | 0.997 | D | 0.634 | neutral | None | None | None | None | N |
| R/Q | 0.199 | likely_benign | 0.1847 | benign | -0.187 | Destabilizing | 0.939 | D | 0.473 | neutral | None | None | None | None | N |
| R/S | 0.8398 | likely_pathogenic | 0.8238 | pathogenic | -0.77 | Destabilizing | 0.92 | D | 0.487 | neutral | N | 0.472322438 | None | None | N |
| R/T | 0.5582 | ambiguous | 0.5385 | ambiguous | -0.439 | Destabilizing | 0.959 | D | 0.521 | neutral | N | 0.420162821 | None | None | N |
| R/V | 0.5671 | likely_pathogenic | 0.5489 | ambiguous | 0.074 | Stabilizing | 0.991 | D | 0.617 | neutral | None | None | None | None | N |
| R/W | 0.5198 | ambiguous | 0.5077 | ambiguous | -0.052 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | N | 0.493676548 | None | None | N |
| R/Y | 0.7359 | likely_pathogenic | 0.7139 | pathogenic | 0.255 | Stabilizing | 0.997 | D | 0.655 | 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.