Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33820 | 101683;101684;101685 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| N2AB | 32179 | 96760;96761;96762 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| N2A | 31252 | 93979;93980;93981 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| N2B | 24755 | 74488;74489;74490 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| Novex-1 | 24880 | 74863;74864;74865 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| Novex-2 | 24947 | 75064;75065;75066 | chr2:178535157;178535156;178535155 | chr2:179399884;179399883;179399882 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 8
- Q(SASA): 0.6316
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs995436105  |
None | None | N | None | 0.254 | 0.586786441633 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs995436105 |
None | None | N | None | 0.254 | 0.586786441633 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.279 | likely_benign | 0.4413 | ambiguous | -0.545 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.5722 | likely_pathogenic | 0.6605 | pathogenic | -0.601 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.6932 | likely_pathogenic | 0.8483 | pathogenic | 0.369 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.3836 | ambiguous | 0.5294 | ambiguous | 0.329 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.4223 | ambiguous | 0.5084 | ambiguous | -0.073 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.5526 | ambiguous | 0.7236 | pathogenic | -0.746 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.3973 | ambiguous | 0.5364 | ambiguous | 0.126 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.3457 | ambiguous | 0.4653 | ambiguous | -0.105 | Destabilizing | None | None | None | None | N | 0.40049213 | None | None | N |
| M/K | 0.1717 | likely_benign | 0.2197 | benign | 0.363 | Stabilizing | None | None | None | None | N | 0.395083523 | None | None | N |
| M/L | 0.1524 | likely_benign | 0.1761 | benign | -0.105 | Destabilizing | None | None | None | None | N | 0.403455077 | None | None | N |
| M/N | 0.3819 | ambiguous | 0.5953 | pathogenic | 0.47 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9211 | likely_pathogenic | 0.963 | pathogenic | -0.221 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.182 | likely_benign | 0.2265 | benign | 0.324 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.1833 | likely_benign | 0.2245 | benign | 0.847 | Stabilizing | None | None | None | None | N | 0.396411675 | None | None | N |
| M/S | 0.2528 | likely_benign | 0.4392 | ambiguous | -0.037 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.1423 | likely_benign | 0.2539 | benign | 0.031 | Stabilizing | None | None | None | None | N | 0.375575043 | None | None | N |
| M/V | 0.0864 | likely_benign | 0.111 | benign | -0.221 | Destabilizing | None | None | None | None | N | 0.396297031 | None | None | N |
| M/W | 0.6976 | likely_pathogenic | 0.7767 | pathogenic | -0.043 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.5869 | likely_pathogenic | 0.7122 | pathogenic | 0.091 | Stabilizing | None | None | None | None | 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.