Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33929 | 102010;102011;102012 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| N2AB | 32288 | 97087;97088;97089 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| N2A | 31361 | 94306;94307;94308 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| N2B | 24864 | 74815;74816;74817 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| Novex-1 | 24989 | 75190;75191;75192 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| Novex-2 | 25056 | 75391;75392;75393 | chr2:178534830;178534829;178534828 | chr2:179399557;179399556;179399555 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 117
- Q(SASA): 0.1297
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | None | N | None | 0.64 | 0.690070301869 | gnomAD-4.0.0 | 1.60075E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.975 | likely_pathogenic | 0.9571 | pathogenic | -2.471 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/C | 0.9274 | likely_pathogenic | 0.8695 | pathogenic | -1.175 | Destabilizing | None | None | None | None | N | 0.48879711 | None | None | I |
| F/D | 0.9814 | likely_pathogenic | 0.9716 | pathogenic | -2.007 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/E | 0.9843 | likely_pathogenic | 0.9741 | pathogenic | -1.917 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/G | 0.9914 | likely_pathogenic | 0.9845 | pathogenic | -2.831 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/H | 0.8662 | likely_pathogenic | 0.8103 | pathogenic | -1.339 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/I | 0.8583 | likely_pathogenic | 0.7788 | pathogenic | -1.353 | Destabilizing | None | None | None | None | N | 0.488036641 | None | None | I |
| F/K | 0.9811 | likely_pathogenic | 0.9694 | pathogenic | -1.327 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/L | 0.9871 | likely_pathogenic | 0.9794 | pathogenic | -1.353 | Destabilizing | None | None | None | None | N | 0.51172148 | None | None | I |
| F/M | 0.9386 | likely_pathogenic | 0.9114 | pathogenic | -0.873 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/N | 0.9652 | likely_pathogenic | 0.9427 | pathogenic | -1.389 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.725 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Q | 0.9801 | likely_pathogenic | 0.9683 | pathogenic | -1.515 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/R | 0.97 | likely_pathogenic | 0.9514 | pathogenic | -0.656 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/S | 0.9698 | likely_pathogenic | 0.9424 | pathogenic | -2.098 | Highly Destabilizing | None | None | None | None | N | 0.515204502 | None | None | I |
| F/T | 0.9667 | likely_pathogenic | 0.9458 | pathogenic | -1.911 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/V | 0.8545 | likely_pathogenic | 0.7785 | pathogenic | -1.725 | Destabilizing | None | None | None | None | N | 0.511894838 | None | None | I |
| F/W | 0.8096 | likely_pathogenic | 0.7566 | pathogenic | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Y | 0.255 | likely_benign | 0.1943 | benign | -0.937 | Destabilizing | None | None | None | None | N | 0.34966816 | None | None | I |
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.