Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33954 | 102085;102086;102087 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| N2AB | 32313 | 97162;97163;97164 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| N2A | 31386 | 94381;94382;94383 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| N2B | 24889 | 74890;74891;74892 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| Novex-1 | 25014 | 75265;75266;75267 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| Novex-2 | 25081 | 75466;75467;75468 | chr2:178534755;178534754;178534753 | chr2:179399482;179399481;179399480 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACC
- RefSeq wild type template codon: TGG
- Domain: Kinase-1
- Domain position: 142
- Q(SASA): 0.1801
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs368172120  |
-0.371 | None | N | None | 0.141 | None | gnomAD-4.0.0 | 2.0527E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 0 |
| T/N | rs368172120 |
-1.085 | None | N | None | 0.173 | 0.0716867268079 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1149 | likely_benign | 0.1411 | benign | -1.067 | Destabilizing | None | None | None | None | N | 0.483340013 | None | None | N |
| T/C | 0.5074 | ambiguous | 0.5716 | pathogenic | -0.759 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.4811 | ambiguous | 0.5441 | ambiguous | -0.495 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.4085 | ambiguous | 0.4848 | ambiguous | -0.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.3313 | likely_benign | 0.3816 | ambiguous | -1.156 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3607 | ambiguous | 0.3958 | ambiguous | -1.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.3218 | likely_benign | 0.4255 | ambiguous | -1.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1623 | likely_benign | 0.1953 | benign | -0.461 | Destabilizing | None | None | None | None | N | 0.46427425 | None | None | N |
| T/K | 0.3006 | likely_benign | 0.364 | ambiguous | -0.816 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1507 | likely_benign | 0.1802 | benign | -0.461 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.1439 | likely_benign | 0.1769 | benign | -0.107 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1614 | likely_benign | 0.2015 | benign | -0.851 | Destabilizing | None | None | None | None | N | 0.42336899 | None | None | N |
| T/P | 0.3319 | likely_benign | 0.3775 | ambiguous | -0.632 | Destabilizing | None | None | None | None | N | 0.450614306 | None | None | N |
| T/Q | 0.2979 | likely_benign | 0.3912 | ambiguous | -1.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2591 | likely_benign | 0.3188 | benign | -0.546 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1638 | likely_benign | 0.1906 | benign | -1.16 | Destabilizing | None | None | None | None | N | 0.449054081 | None | None | N |
| T/V | 0.1307 | likely_benign | 0.1477 | benign | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.7439 | likely_pathogenic | 0.8146 | pathogenic | -1.039 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.3825 | ambiguous | 0.4912 | ambiguous | -0.812 | 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.