Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17711 | 53356;53357;53358 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| N2AB | 16070 | 48433;48434;48435 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| N2A | 15143 | 45652;45653;45654 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| N2B | 8646 | 26161;26162;26163 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| Novex-1 | 8771 | 26536;26537;26538 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| Novex-2 | 8838 | 26737;26738;26739 | chr2:178607557;178607556;178607555 | chr2:179472284;179472283;179472282 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs773642381  |
-0.284 | 0.018 | N | 0.395 | 0.237 | 0.387202362727 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.85E-06 | 0 |
| G/R | rs773642381 |
-0.284 | 0.018 | N | 0.395 | 0.237 | 0.387202362727 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs773642381 |
-0.284 | 0.018 | N | 0.395 | 0.237 | 0.387202362727 | gnomAD-4.0.0 | 3.09969E-06 | None | None | None | None | N | None | 1.33593E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39165E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1277 | likely_benign | 0.1341 | benign | -0.252 | Destabilizing | 0.034 | N | 0.269 | neutral | N | 0.44149339 | None | None | N |
| G/C | 0.2373 | likely_benign | 0.2619 | benign | -0.907 | Destabilizing | 0.996 | D | 0.59 | neutral | None | None | None | None | N |
| G/D | 0.1895 | likely_benign | 0.2112 | benign | -0.597 | Destabilizing | 0.858 | D | 0.408 | neutral | None | None | None | None | N |
| G/E | 0.185 | likely_benign | 0.1999 | benign | -0.76 | Destabilizing | 0.722 | D | 0.469 | neutral | N | 0.460212437 | None | None | N |
| G/F | 0.5842 | likely_pathogenic | 0.6197 | pathogenic | -0.976 | Destabilizing | 0.961 | D | 0.581 | neutral | None | None | None | None | N |
| G/H | 0.4766 | ambiguous | 0.5081 | ambiguous | -0.487 | Destabilizing | 0.989 | D | 0.548 | neutral | None | None | None | None | N |
| G/I | 0.2604 | likely_benign | 0.2897 | benign | -0.423 | Destabilizing | 0.961 | D | 0.577 | neutral | None | None | None | None | N |
| G/K | 0.392 | ambiguous | 0.428 | ambiguous | -0.84 | Destabilizing | 0.096 | N | 0.35 | neutral | None | None | None | None | N |
| G/L | 0.4224 | ambiguous | 0.4661 | ambiguous | -0.423 | Destabilizing | 0.923 | D | 0.531 | neutral | None | None | None | None | N |
| G/M | 0.4143 | ambiguous | 0.4364 | ambiguous | -0.531 | Destabilizing | 0.996 | D | 0.582 | neutral | None | None | None | None | N |
| G/N | 0.2731 | likely_benign | 0.2795 | benign | -0.489 | Destabilizing | 0.096 | N | 0.271 | neutral | None | None | None | None | N |
| G/P | 0.8758 | likely_pathogenic | 0.8988 | pathogenic | -0.334 | Destabilizing | 0.961 | D | 0.527 | neutral | None | None | None | None | N |
| G/Q | 0.3602 | ambiguous | 0.3798 | ambiguous | -0.767 | Destabilizing | 0.923 | D | 0.526 | neutral | None | None | None | None | N |
| G/R | 0.3519 | ambiguous | 0.3736 | ambiguous | -0.397 | Destabilizing | 0.018 | N | 0.395 | neutral | N | 0.46689048 | None | None | N |
| G/S | 0.1234 | likely_benign | 0.1215 | benign | -0.614 | Destabilizing | 0.096 | N | 0.256 | neutral | None | None | None | None | N |
| G/T | 0.1491 | likely_benign | 0.1534 | benign | -0.71 | Destabilizing | 0.633 | D | 0.468 | neutral | None | None | None | None | N |
| G/V | 0.1726 | likely_benign | 0.1886 | benign | -0.334 | Destabilizing | 0.901 | D | 0.549 | neutral | N | 0.465429043 | None | None | N |
| G/W | 0.4754 | ambiguous | 0.5186 | ambiguous | -1.13 | Destabilizing | 0.995 | D | 0.595 | neutral | N | 0.492707449 | None | None | N |
| G/Y | 0.4627 | ambiguous | 0.5042 | ambiguous | -0.791 | Destabilizing | 0.987 | D | 0.581 | 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.