Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33836 | 101731;101732;101733 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| N2AB | 32195 | 96808;96809;96810 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| N2A | 31268 | 94027;94028;94029 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| N2B | 24771 | 74536;74537;74538 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| Novex-1 | 24896 | 74911;74912;74913 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| Novex-2 | 24963 | 75112;75113;75114 | chr2:178535109;178535108;178535107 | chr2:179399836;179399835;179399834 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: C
- RefSeq wild type transcript codon: TGT
- RefSeq wild type template codon: ACA
- Domain: Kinase-1
- Domain position: 24
- Q(SASA): 0.08
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs766439271  |
-1.938 | None | N | None | 0.489 | 0.596707214066 | gnomAD-2.1.1 | 1.14305E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.19001E-04 | None | 0 | 7.82E-05 | 0 |
| C/S | rs766439271 |
-1.938 | None | N | None | 0.489 | 0.596707214066 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 6.21375E-04 | 4.77555E-04 |
| C/S | rs766439271 |
-1.938 | None | N | None | 0.489 | 0.596707214066 | gnomAD-4.0.0 | 1.00388E-04 | None | None | None | None | N | None | 1.33469E-05 | 0 | None | 0 | 0 | None | 0 | 8.21828E-04 | 7.20427E-05 | 7.02648E-04 | 1.12065E-04 |
| C/W | None | None | None | N | None | 0.389 | 0.620138186352 | gnomAD-4.0.0 | 6.84207E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6737 | likely_pathogenic | 0.5929 | pathogenic | -1.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.9929 | likely_pathogenic | 0.9877 | pathogenic | -1.405 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.9953 | likely_pathogenic | 0.9914 | pathogenic | -1.143 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.8414 | likely_pathogenic | 0.737 | pathogenic | -0.766 | Destabilizing | None | None | None | None | N | 0.487799247 | None | None | N |
| C/G | 0.6882 | likely_pathogenic | 0.565 | pathogenic | -1.633 | Destabilizing | None | None | None | None | N | 0.425189347 | None | None | N |
| C/H | 0.9853 | likely_pathogenic | 0.9749 | pathogenic | -1.901 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.8575 | likely_pathogenic | 0.7774 | pathogenic | -0.302 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.9974 | likely_pathogenic | 0.9949 | pathogenic | -0.673 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.8491 | likely_pathogenic | 0.7766 | pathogenic | -0.302 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.9136 | likely_pathogenic | 0.8695 | pathogenic | -0.031 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.9701 | likely_pathogenic | 0.9505 | pathogenic | -1.412 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.9963 | likely_pathogenic | 0.9947 | pathogenic | -0.605 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.9904 | likely_pathogenic | 0.9837 | pathogenic | -0.86 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.9816 | likely_pathogenic | 0.9689 | pathogenic | -1.278 | Destabilizing | None | None | None | None | N | 0.487799247 | None | None | N |
| C/S | 0.6973 | likely_pathogenic | 0.5994 | pathogenic | -1.616 | Destabilizing | None | None | None | None | N | 0.506733295 | None | None | N |
| C/T | 0.824 | likely_pathogenic | 0.7314 | pathogenic | -1.168 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.7002 | likely_pathogenic | 0.6107 | pathogenic | -0.605 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.9791 | likely_pathogenic | 0.963 | pathogenic | -1.233 | Destabilizing | None | None | None | None | N | 0.46180818 | None | None | N |
| C/Y | 0.9414 | likely_pathogenic | 0.8998 | pathogenic | -0.942 | Destabilizing | None | None | None | None | N | 0.469694992 | 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.