Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7671 | 23236;23237;23238 | chr2:178721008;178721007;178721006 | chr2:179585735;179585734;179585733 |
| N2AB | 7354 | 22285;22286;22287 | chr2:178721008;178721007;178721006 | chr2:179585735;179585734;179585733 |
| N2A | 6427 | 19504;19505;19506 | chr2:178721008;178721007;178721006 | chr2:179585735;179585734;179585733 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1230535310  |
-1.278 | 0.201 | D | 0.471 | 0.405 | 0.336892272479 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1230535310 |
-1.278 | 0.201 | D | 0.471 | 0.405 | 0.336892272479 | gnomAD-4.0.0 | 9.55578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66417E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1560675339 |
None | 0.007 | N | 0.172 | 0.213 | 0.203808441222 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1560675339 |
None | 0.007 | N | 0.172 | 0.213 | 0.203808441222 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47033E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5873 | likely_pathogenic | 0.6363 | pathogenic | -1.789 | Destabilizing | 0.992 | D | 0.57 | neutral | None | None | None | None | N |
| A/D | 0.8903 | likely_pathogenic | 0.9113 | pathogenic | -2.743 | Highly Destabilizing | 0.549 | D | 0.597 | neutral | N | 0.519555252 | None | None | N |
| A/E | 0.8645 | likely_pathogenic | 0.9026 | pathogenic | -2.712 | Highly Destabilizing | 0.617 | D | 0.561 | neutral | None | None | None | None | N |
| A/F | 0.6737 | likely_pathogenic | 0.7453 | pathogenic | -1.183 | Destabilizing | 0.012 | N | 0.411 | neutral | None | None | None | None | N |
| A/G | 0.2615 | likely_benign | 0.2597 | benign | -1.335 | Destabilizing | 0.201 | N | 0.471 | neutral | D | 0.542014373 | None | None | N |
| A/H | 0.932 | likely_pathogenic | 0.9553 | pathogenic | -1.308 | Destabilizing | 0.977 | D | 0.552 | neutral | None | None | None | None | N |
| A/I | 0.2785 | likely_benign | 0.3297 | benign | -0.439 | Destabilizing | 0.447 | N | 0.523 | neutral | None | None | None | None | N |
| A/K | 0.9533 | likely_pathogenic | 0.9705 | pathogenic | -1.367 | Destabilizing | 0.447 | N | 0.561 | neutral | None | None | None | None | N |
| A/L | 0.2687 | likely_benign | 0.2982 | benign | -0.439 | Destabilizing | 0.25 | N | 0.484 | neutral | None | None | None | None | N |
| A/M | 0.3687 | ambiguous | 0.4032 | ambiguous | -0.664 | Destabilizing | 0.92 | D | 0.579 | neutral | None | None | None | None | N |
| A/N | 0.7479 | likely_pathogenic | 0.8081 | pathogenic | -1.539 | Destabilizing | 0.739 | D | 0.613 | neutral | None | None | None | None | N |
| A/P | 0.4574 | ambiguous | 0.5602 | ambiguous | -0.611 | Destabilizing | 0.896 | D | 0.619 | neutral | D | 0.535795992 | None | None | N |
| A/Q | 0.8769 | likely_pathogenic | 0.9104 | pathogenic | -1.713 | Destabilizing | 0.85 | D | 0.623 | neutral | None | None | None | None | N |
| A/R | 0.9248 | likely_pathogenic | 0.9472 | pathogenic | -1.027 | Destabilizing | 0.85 | D | 0.623 | neutral | None | None | None | None | N |
| A/S | 0.1854 | likely_benign | 0.1973 | benign | -1.798 | Destabilizing | 0.007 | N | 0.17 | neutral | D | 0.530254099 | None | None | N |
| A/T | 0.1286 | likely_benign | 0.1416 | benign | -1.682 | Destabilizing | 0.007 | N | 0.172 | neutral | N | 0.504934367 | None | None | N |
| A/V | 0.1231 | likely_benign | 0.1356 | benign | -0.611 | Destabilizing | 0.004 | N | 0.335 | neutral | N | 0.433796627 | None | None | N |
| A/W | 0.9545 | likely_pathogenic | 0.9707 | pathogenic | -1.588 | Destabilizing | 0.992 | D | 0.569 | neutral | None | None | None | None | N |
| A/Y | 0.8572 | likely_pathogenic | 0.9043 | pathogenic | -1.147 | Destabilizing | 0.739 | D | 0.602 | 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.