Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33895 | 101908;101909;101910 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| N2AB | 32254 | 96985;96986;96987 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| N2A | 31327 | 94204;94205;94206 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| N2B | 24830 | 74713;74714;74715 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| Novex-1 | 24955 | 75088;75089;75090 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| Novex-2 | 25022 | 75289;75290;75291 | chr2:178534932;178534931;178534930 | chr2:179399659;179399658;179399657 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATA
- RefSeq wild type template codon: TAT
- Domain: Kinase-1
- Domain position: 83
- Q(SASA): 0.1085
- 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/L | rs759278414  |
None | None | N | None | 0.201 | 0.404592120364 | gnomAD-4.0.0 | 6.85192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99483E-07 | 0 | 0 |
| I/T | rs1575286728 |
None | None | N | None | 0.504 | 0.642757676758 | 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 |
| I/T | rs1575286728 |
None | None | N | None | 0.504 | 0.642757676758 | gnomAD-4.0.0 | 3.10224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22866E-05 | None | 0 | 0 | 2.54282E-06 | 0 | 1.60113E-05 |
| I/V | rs759278414 |
-1.685 | None | N | None | 0.133 | 0.321108458156 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | rs759278414 |
-1.685 | None | N | None | 0.133 | 0.321108458156 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs759278414 |
-1.685 | None | N | None | 0.133 | 0.321108458156 | gnomAD-4.0.0 | 1.86142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22806E-05 | None | 0 | 0 | 8.47613E-07 | 1.09791E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6747 | likely_pathogenic | 0.7675 | pathogenic | -2.429 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.802 | likely_pathogenic | 0.8669 | pathogenic | -1.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9591 | likely_pathogenic | 0.9802 | pathogenic | -1.995 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9114 | likely_pathogenic | 0.9523 | pathogenic | -1.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.3506 | ambiguous | 0.4476 | ambiguous | -1.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.9301 | likely_pathogenic | 0.9627 | pathogenic | -2.97 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.849 | likely_pathogenic | 0.9246 | pathogenic | -2.228 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.8443 | likely_pathogenic | 0.9094 | pathogenic | -1.722 | Destabilizing | None | None | None | None | N | 0.499153961 | None | None | N |
| I/L | 0.1027 | likely_benign | 0.1511 | benign | -0.89 | Destabilizing | None | None | None | None | N | 0.36466375 | None | None | N |
| I/M | 0.1601 | likely_benign | 0.2264 | benign | -0.913 | Destabilizing | None | None | None | None | N | 0.411262831 | None | None | N |
| I/N | 0.7272 | likely_pathogenic | 0.8373 | pathogenic | -1.917 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.9475 | likely_pathogenic | 0.9784 | pathogenic | -1.381 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.7854 | likely_pathogenic | 0.8827 | pathogenic | -1.808 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.7688 | likely_pathogenic | 0.8464 | pathogenic | -1.433 | Destabilizing | None | None | None | None | N | 0.510024316 | None | None | N |
| I/S | 0.6755 | likely_pathogenic | 0.7677 | pathogenic | -2.758 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.5511 | ambiguous | 0.7239 | pathogenic | -2.4 | Highly Destabilizing | None | None | None | None | N | 0.498807245 | None | None | N |
| I/V | 0.1253 | likely_benign | 0.1403 | benign | -1.381 | Destabilizing | None | None | None | None | N | 0.379305128 | None | None | N |
| I/W | 0.921 | likely_pathogenic | 0.9674 | pathogenic | -1.626 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7964 | likely_pathogenic | 0.8785 | pathogenic | -1.373 | 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.