Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33984 | 102175;102176;102177 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| N2AB | 32343 | 97252;97253;97254 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| N2A | 31416 | 94471;94472;94473 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| N2B | 24919 | 74980;74981;74982 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| Novex-1 | 25044 | 75355;75356;75357 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| Novex-2 | 25111 | 75556;75557;75558 | chr2:178534665;178534664;178534663 | chr2:179399392;179399391;179399390 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: P
- RefSeq wild type transcript codon: CCT
- RefSeq wild type template codon: GGA
- Domain: Kinase-1
- Domain position: 172
- Q(SASA): 0.0953
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | None | D | None | 0.746 | 0.793104194374 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 0 | 0 |
| P/L | rs1392647027  |
-0.507 | None | D | None | 0.708 | 0.860943116164 | 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 |
| P/L | rs1392647027 |
-0.507 | None | D | None | 0.708 | 0.860943116164 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31911E-05 | 0 |
| P/R | None | None | None | D | None | 0.734 | 0.793104194374 | gnomAD-4.0.0 | 6.84258E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99526E-07 | 0 | 0 |
| P/S | None | None | None | D | None | 0.688 | 0.694550111375 | gnomAD-4.0.0 | 3.18299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 3.02462E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4673 | ambiguous | 0.413 | ambiguous | -2.233 | Highly Destabilizing | None | None | None | None | D | 0.62479391 | None | None | N |
| P/C | 0.967 | likely_pathogenic | 0.9513 | pathogenic | -1.667 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.9502 | likely_pathogenic | 0.9436 | pathogenic | -3.109 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.8662 | likely_pathogenic | 0.8474 | pathogenic | -2.898 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.9793 | likely_pathogenic | 0.9687 | pathogenic | -1.162 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.8766 | likely_pathogenic | 0.8509 | pathogenic | -2.701 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.863 | likely_pathogenic | 0.8433 | pathogenic | -2.477 | Highly Destabilizing | None | None | None | None | D | 0.65073563 | None | None | N |
| P/I | 0.9317 | likely_pathogenic | 0.911 | pathogenic | -0.896 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.8892 | likely_pathogenic | 0.8652 | pathogenic | -1.738 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.7221 | likely_pathogenic | 0.6742 | pathogenic | -0.896 | Destabilizing | None | None | None | None | D | 0.62479391 | None | None | N |
| P/M | 0.9178 | likely_pathogenic | 0.8971 | pathogenic | -0.969 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.934 | likely_pathogenic | 0.9295 | pathogenic | -2.116 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.7582 | likely_pathogenic | 0.7477 | pathogenic | -1.925 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/R | 0.7834 | likely_pathogenic | 0.7557 | pathogenic | -1.582 | Destabilizing | None | None | None | None | D | 0.65073563 | None | None | N |
| P/S | 0.6798 | likely_pathogenic | 0.6408 | pathogenic | -2.593 | Highly Destabilizing | None | None | None | None | D | 0.608774549 | None | None | N |
| P/T | 0.6874 | likely_pathogenic | 0.639 | pathogenic | -2.275 | Highly Destabilizing | None | None | None | None | D | 0.650533826 | None | None | N |
| P/V | 0.8287 | likely_pathogenic | 0.7921 | pathogenic | -1.323 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.988 | likely_pathogenic | 0.9828 | pathogenic | -1.781 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.9724 | likely_pathogenic | 0.9619 | pathogenic | -1.517 | 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.