Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29943 | 90052;90053;90054 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| N2AB | 28302 | 85129;85130;85131 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| N2A | 27375 | 82348;82349;82350 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| N2B | 20878 | 62857;62858;62859 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| Novex-1 | 21003 | 63232;63233;63234 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| Novex-2 | 21070 | 63433;63434;63435 | chr2:178553073;178553072;178553071 | chr2:179417800;179417799;179417798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.999 | N | 0.614 | 0.406 | 0.335910606209 | gnomAD-4.0.0 | 1.59631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7787E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs532120965  |
-0.381 | 1.0 | N | 0.721 | 0.444 | 0.364730456448 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| K/T | rs532120965 |
-0.381 | 1.0 | N | 0.721 | 0.444 | 0.364730456448 | gnomAD-4.0.0 | 3.19004E-06 | None | None | None | None | N | None | 0 | 2.28875E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43357E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5276 | ambiguous | 0.5097 | ambiguous | -0.002 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/C | 0.7288 | likely_pathogenic | 0.7032 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| K/D | 0.8 | likely_pathogenic | 0.7774 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/E | 0.3564 | ambiguous | 0.3379 | benign | 0.062 | Stabilizing | 0.999 | D | 0.614 | neutral | N | 0.499682397 | None | None | N |
| K/F | 0.8657 | likely_pathogenic | 0.8316 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/G | 0.6463 | likely_pathogenic | 0.6118 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/H | 0.3602 | ambiguous | 0.341 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/I | 0.4513 | ambiguous | 0.4197 | ambiguous | 0.582 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.466925013 | None | None | N |
| K/L | 0.5016 | ambiguous | 0.4655 | ambiguous | 0.582 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/M | 0.333 | likely_benign | 0.3123 | benign | 0.253 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/N | 0.5933 | likely_pathogenic | 0.5472 | ambiguous | 0.254 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.471230654 | None | None | N |
| K/P | 0.9413 | likely_pathogenic | 0.9314 | pathogenic | 0.416 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Q | 0.1542 | likely_benign | 0.1475 | benign | 0.146 | Stabilizing | 1.0 | D | 0.655 | neutral | N | 0.510496824 | None | None | N |
| K/R | 0.0937 | likely_benign | 0.0887 | benign | -0.112 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.508995314 | None | None | N |
| K/S | 0.5103 | ambiguous | 0.4814 | ambiguous | -0.189 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| K/T | 0.2193 | likely_benign | 0.215 | benign | 0.007 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.447117349 | None | None | N |
| K/V | 0.4332 | ambiguous | 0.4092 | ambiguous | 0.416 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/W | 0.8523 | likely_pathogenic | 0.8159 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/Y | 0.7403 | likely_pathogenic | 0.7037 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | 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.