Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2944 | 9055;9056;9057 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| N2AB | 2944 | 9055;9056;9057 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| N2A | 2944 | 9055;9056;9057 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| N2B | 2898 | 8917;8918;8919 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| Novex-1 | 2898 | 8917;8918;8919 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| Novex-2 | 2898 | 8917;8918;8919 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
| Novex-3 | 2944 | 9055;9056;9057 | chr2:178769751;178769750;178769749 | chr2:179634478;179634477;179634476 |
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/R | rs773424866  |
-0.115 | 0.999 | N | 0.733 | 0.495 | 0.489104616352 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/R | rs773424866 |
-0.115 | 0.999 | N | 0.733 | 0.495 | 0.489104616352 | gnomAD-4.0.0 | 6.84068E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1334 | likely_benign | 0.1204 | benign | -0.472 | Destabilizing | 0.98 | D | 0.407 | neutral | None | None | None | None | N |
| S/C | 0.2177 | likely_benign | 0.2234 | benign | -0.432 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.50724639 | None | None | N |
| S/D | 0.6475 | likely_pathogenic | 0.6413 | pathogenic | -0.939 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | N |
| S/E | 0.8166 | likely_pathogenic | 0.8048 | pathogenic | -1.004 | Destabilizing | 0.999 | D | 0.523 | neutral | None | None | None | None | N |
| S/F | 0.6471 | likely_pathogenic | 0.6084 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| S/G | 0.156 | likely_benign | 0.1534 | benign | -0.606 | Destabilizing | 0.104 | N | 0.208 | neutral | N | 0.504414832 | None | None | N |
| S/H | 0.6891 | likely_pathogenic | 0.6872 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/I | 0.6297 | likely_pathogenic | 0.5682 | pathogenic | -0.236 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.506356589 | None | None | N |
| S/K | 0.9098 | likely_pathogenic | 0.9085 | pathogenic | -0.601 | Destabilizing | 0.996 | D | 0.55 | neutral | None | None | None | None | N |
| S/L | 0.2729 | likely_benign | 0.2468 | benign | -0.236 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| S/M | 0.4503 | ambiguous | 0.4425 | ambiguous | 0.289 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| S/N | 0.3013 | likely_benign | 0.286 | benign | -0.578 | Destabilizing | 0.994 | D | 0.515 | neutral | N | 0.509091612 | None | None | N |
| S/P | 0.9552 | likely_pathogenic | 0.9438 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/Q | 0.7705 | likely_pathogenic | 0.7757 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| S/R | 0.8484 | likely_pathogenic | 0.8476 | pathogenic | -0.275 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.497302773 | None | None | N |
| S/T | 0.1292 | likely_benign | 0.1181 | benign | -0.555 | Destabilizing | 0.994 | D | 0.427 | neutral | N | 0.434884556 | None | None | N |
| S/V | 0.5229 | ambiguous | 0.4776 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/W | 0.833 | likely_pathogenic | 0.8229 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| S/Y | 0.6139 | likely_pathogenic | 0.5934 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.764 | deleterious | 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.