Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19995 | 60208;60209;60210 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| N2AB | 18354 | 55285;55286;55287 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| N2A | 17427 | 52504;52505;52506 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| N2B | 10930 | 33013;33014;33015 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| Novex-1 | 11055 | 33388;33389;33390 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| Novex-2 | 11122 | 33589;33590;33591 | chr2:178591836;178591835;178591834 | chr2:179456563;179456562;179456561 |
| 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/F | rs1272769120  |
None | 0.976 | N | 0.603 | 0.359 | 0.63713380425 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1272769120 |
None | 0.976 | N | 0.603 | 0.359 | 0.63713380425 | gnomAD-4.0.0 | 2.03014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40999E-06 | 0 | 0 |
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 | 0.1341 | likely_benign | 0.1217 | benign | -0.623 | Destabilizing | 0.906 | D | 0.523 | neutral | N | 0.435615063 | None | None | N |
| S/C | 0.14 | likely_benign | 0.151 | benign | -0.57 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.492681854 | None | None | N |
| S/D | 0.7229 | likely_pathogenic | 0.7127 | pathogenic | -1.075 | Destabilizing | 0.99 | D | 0.532 | neutral | None | None | None | None | N |
| S/E | 0.7505 | likely_pathogenic | 0.7343 | pathogenic | -0.973 | Destabilizing | 0.99 | D | 0.529 | neutral | None | None | None | None | N |
| S/F | 0.2278 | likely_benign | 0.2138 | benign | -0.446 | Destabilizing | 0.976 | D | 0.603 | neutral | N | 0.483446295 | None | None | N |
| S/G | 0.2295 | likely_benign | 0.2012 | benign | -0.973 | Destabilizing | 0.927 | D | 0.505 | neutral | None | None | None | None | N |
| S/H | 0.3471 | ambiguous | 0.346 | ambiguous | -1.452 | Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| S/I | 0.2624 | likely_benign | 0.2408 | benign | 0.229 | Stabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | N |
| S/K | 0.7918 | likely_pathogenic | 0.7674 | pathogenic | -0.748 | Destabilizing | 0.99 | D | 0.535 | neutral | None | None | None | None | N |
| S/L | 0.1508 | likely_benign | 0.1256 | benign | 0.229 | Stabilizing | 0.939 | D | 0.565 | neutral | None | None | None | None | N |
| S/M | 0.257 | likely_benign | 0.23 | benign | 0.273 | Stabilizing | 0.997 | D | 0.619 | neutral | None | None | None | None | N |
| S/N | 0.2744 | likely_benign | 0.2554 | benign | -1.081 | Destabilizing | 0.99 | D | 0.559 | neutral | None | None | None | None | N |
| S/P | 0.9546 | likely_pathogenic | 0.9442 | pathogenic | -0.019 | Destabilizing | 0.996 | D | 0.605 | neutral | N | 0.506245797 | None | None | N |
| S/Q | 0.6372 | likely_pathogenic | 0.6136 | pathogenic | -1.006 | Destabilizing | 0.997 | D | 0.571 | neutral | None | None | None | None | N |
| S/R | 0.7095 | likely_pathogenic | 0.6724 | pathogenic | -0.883 | Destabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| S/T | 0.1043 | likely_benign | 0.091 | benign | -0.852 | Destabilizing | 0.986 | D | 0.549 | neutral | N | 0.350668237 | None | None | N |
| S/V | 0.2758 | likely_benign | 0.2575 | benign | -0.019 | Destabilizing | 0.997 | D | 0.601 | neutral | None | None | None | None | N |
| S/W | 0.3037 | likely_benign | 0.3002 | benign | -0.627 | Destabilizing | 0.02 | N | 0.52 | neutral | None | None | None | None | N |
| S/Y | 0.1815 | likely_benign | 0.1823 | benign | -0.267 | Destabilizing | 0.976 | D | 0.598 | neutral | N | 0.476712324 | 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.