Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27083 | 81472;81473;81474 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| N2AB | 25442 | 76549;76550;76551 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| N2A | 24515 | 73768;73769;73770 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| N2B | 18018 | 54277;54278;54279 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| Novex-1 | 18143 | 54652;54653;54654 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| Novex-2 | 18210 | 54853;54854;54855 | chr2:178564885;178564884;178564883 | chr2:179429612;179429611;179429610 |
| 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/P | rs186273940  |
0.009 | 0.662 | N | 0.455 | 0.236 | None | gnomAD-2.1.1 | 2.58928E-04 | None | None | None | None | N | None | 8.28E-05 | 8.56E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.27003E-04 | 0 |
| S/P | rs186273940 |
0.009 | 0.662 | N | 0.455 | 0.236 | None | gnomAD-3.1.2 | 9.86012E-04 | None | None | None | None | N | None | 1.20662E-04 | 1.31027E-04 | 1.11842E-01 | 0 | 0 | None | 0 | 0 | 5.88201E-04 | 0 | 4.77555E-04 |
| S/P | rs186273940 |
0.009 | 0.662 | N | 0.455 | 0.236 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 3E-03 | None | None | None | 0 | None |
| S/P | rs186273940 |
0.009 | 0.662 | N | 0.455 | 0.236 | None | gnomAD-4.0.0 | 4.15515E-04 | None | None | None | None | N | None | 1.20147E-04 | 1.00331E-04 | None | 0 | 0 | None | 0 | 0 | 4.62104E-04 | 0 | 1.28213E-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 | 0.0614 | likely_benign | 0.0627 | benign | -0.34 | Destabilizing | None | N | 0.062 | neutral | N | 0.438441937 | None | None | N |
| S/C | 0.0984 | likely_benign | 0.0963 | benign | -0.338 | Destabilizing | 0.991 | D | 0.405 | neutral | None | None | None | None | N |
| S/D | 0.2648 | likely_benign | 0.2915 | benign | 0.533 | Stabilizing | 0.004 | N | 0.095 | neutral | None | None | None | None | N |
| S/E | 0.3551 | ambiguous | 0.3818 | ambiguous | 0.456 | Stabilizing | 0.209 | N | 0.293 | neutral | None | None | None | None | N |
| S/F | 0.1331 | likely_benign | 0.1395 | benign | -0.864 | Destabilizing | 0.901 | D | 0.51 | neutral | None | None | None | None | N |
| S/G | 0.087 | likely_benign | 0.0886 | benign | -0.467 | Destabilizing | 0.209 | N | 0.306 | neutral | None | None | None | None | N |
| S/H | 0.2306 | likely_benign | 0.2426 | benign | -0.886 | Destabilizing | 0.009 | N | 0.219 | neutral | None | None | None | None | N |
| S/I | 0.1489 | likely_benign | 0.1621 | benign | -0.137 | Destabilizing | 0.818 | D | 0.504 | neutral | None | None | None | None | N |
| S/K | 0.5 | ambiguous | 0.5473 | ambiguous | -0.305 | Destabilizing | 0.561 | D | 0.277 | neutral | None | None | None | None | N |
| S/L | 0.0903 | likely_benign | 0.0919 | benign | -0.137 | Destabilizing | 0.326 | N | 0.437 | neutral | N | 0.495740802 | None | None | N |
| S/M | 0.1419 | likely_benign | 0.1398 | benign | -0.043 | Destabilizing | 0.965 | D | 0.41 | neutral | None | None | None | None | N |
| S/N | 0.11 | likely_benign | 0.1165 | benign | -0.133 | Destabilizing | 0.39 | N | 0.289 | neutral | None | None | None | None | N |
| S/P | 0.8169 | likely_pathogenic | 0.8653 | pathogenic | -0.175 | Destabilizing | 0.662 | D | 0.455 | neutral | N | 0.510592824 | None | None | N |
| S/Q | 0.3379 | likely_benign | 0.3515 | ambiguous | -0.327 | Destabilizing | 0.818 | D | 0.394 | neutral | None | None | None | None | N |
| S/R | 0.4535 | ambiguous | 0.5068 | ambiguous | -0.156 | Destabilizing | 0.561 | D | 0.473 | neutral | None | None | None | None | N |
| S/T | 0.0776 | likely_benign | 0.08 | benign | -0.265 | Destabilizing | 0.013 | N | 0.073 | neutral | N | 0.461300154 | None | None | N |
| S/V | 0.1384 | likely_benign | 0.1419 | benign | -0.175 | Destabilizing | 0.39 | N | 0.434 | neutral | None | None | None | None | N |
| S/W | 0.2814 | likely_benign | 0.2983 | benign | -0.862 | Destabilizing | 0.991 | D | 0.518 | neutral | None | None | None | None | N |
| S/Y | 0.1307 | likely_benign | 0.1336 | benign | -0.568 | Destabilizing | 0.818 | D | 0.502 | 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.