Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34024 | 102295;102296;102297 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| N2AB | 32383 | 97372;97373;97374 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| N2A | 31456 | 94591;94592;94593 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| N2B | 24959 | 75100;75101;75102 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| Novex-1 | 25084 | 75475;75476;75477 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| Novex-2 | 25151 | 75676;75677;75678 | chr2:178534545;178534544;178534543 | chr2:179399272;179399271;179399270 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 212
- Q(SASA): 0.1128
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | None | N | None | 0.399 | 0.548654159409 | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07681E-05 | 0 |
| I/M | rs1296908123  |
-1.104 | None | N | None | 0.406 | 0.613074781518 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/M | rs1296908123 |
-1.104 | None | N | None | 0.406 | 0.613074781518 | gnomAD-4.0.0 | 6.84203E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| I/T | rs779963495 |
-2.707 | None | N | None | 0.514 | 0.739848603534 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs779963495 |
-2.707 | None | N | None | 0.514 | 0.739848603534 | gnomAD-4.0.0 | 4.10523E-06 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 3.59785E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5917 | likely_pathogenic | 0.5312 | ambiguous | -2.484 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9312 | likely_pathogenic | 0.9173 | pathogenic | -1.683 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9723 | likely_pathogenic | 0.9689 | pathogenic | -3.219 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.8438 | likely_pathogenic | 0.8246 | pathogenic | -3.117 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.5689 | likely_pathogenic | 0.5787 | pathogenic | -1.73 | Destabilizing | None | None | None | None | N | 0.423006417 | None | None | N |
| I/G | 0.9429 | likely_pathogenic | 0.9311 | pathogenic | -2.903 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9082 | likely_pathogenic | 0.8982 | pathogenic | -2.488 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.7216 | likely_pathogenic | 0.6743 | pathogenic | -2.109 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2732 | likely_benign | 0.2688 | benign | -1.307 | Destabilizing | None | None | None | None | N | 0.419446037 | None | None | N |
| I/M | 0.2076 | likely_benign | 0.1985 | benign | -0.952 | Destabilizing | None | None | None | None | N | 0.458255141 | None | None | N |
| I/N | 0.8112 | likely_pathogenic | 0.7911 | pathogenic | -2.208 | Highly Destabilizing | None | None | None | None | N | 0.497658891 | None | None | N |
| I/P | 0.9793 | likely_pathogenic | 0.9737 | pathogenic | -1.679 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.7519 | likely_pathogenic | 0.7309 | pathogenic | -2.248 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.6004 | likely_pathogenic | 0.5643 | pathogenic | -1.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.7133 | likely_pathogenic | 0.6695 | pathogenic | -2.694 | Highly Destabilizing | None | None | None | None | N | 0.474782032 | None | None | N |
| I/T | 0.378 | ambiguous | 0.3171 | benign | -2.486 | Highly Destabilizing | None | None | None | None | N | 0.480438568 | None | None | N |
| I/V | 0.1948 | likely_benign | 0.1649 | benign | -1.679 | Destabilizing | None | None | None | None | N | 0.427718804 | None | None | N |
| I/W | 0.9592 | likely_pathogenic | 0.9575 | pathogenic | -2.178 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8754 | likely_pathogenic | 0.8796 | pathogenic | -1.946 | Destabilizing | 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.