Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4116 | 12571;12572;12573 | chr2:178740887;178740886;178740885 | chr2:179605614;179605613;179605612 |
| N2AB | 3799 | 11620;11621;11622 | chr2:178740887;178740886;178740885 | chr2:179605614;179605613;179605612 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3753 | 11482;11483;11484 | chr2:178740887;178740886;178740885 | chr2:179605614;179605613;179605612 |
| Novex-1 | 3878 | 11857;11858;11859 | chr2:178740887;178740886;178740885 | chr2:179605614;179605613;179605612 |
| Novex-2 | 3945 | 12058;12059;12060 | chr2:178740887;178740886;178740885 | chr2:179605614;179605613;179605612 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCC
- RefSeq wild type template codon: AGG
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | None | N | None | 0.143 | None | gnomAD-4.0.0 | 6.84181E-07 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 0 | 0 | |
| S/Y | None | None | None | N | None | 0.237 | None |
Itoh-Satoh (2002) 
Matsumoto (2006)
| None |
HCM 
|
het | None | None | Increases binding of TTN to FHL2 (Y2H assay) | None | None | None | None | None | None | None | None | None | None | None | |
| S/Y | None | None | None | N | None | 0.237 | None | gnomAD-4.0.0 | 6.15763E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09492E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0827 | likely_benign | 0.0796 | benign | None | None | None | None | None | None | N | 0.468261602 | None | None | |
| S/C | 0.094 | likely_benign | 0.0919 | benign | None | None | None | None | None | None | N | 0.471568668 | None | None | |
| S/D | 0.1778 | likely_benign | 0.1642 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/E | 0.254 | likely_benign | 0.2352 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/F | 0.1483 | likely_benign | 0.1291 | benign | None | None | None | None | None | None | N | 0.471568668 | None | None | |
| S/G | 0.0857 | likely_benign | 0.0839 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/H | 0.188 | likely_benign | 0.1741 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/I | 0.1475 | likely_benign | 0.1342 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/K | 0.3341 | likely_benign | 0.2932 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/L | 0.1056 | likely_benign | 0.0892 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/M | 0.1987 | likely_benign | 0.1784 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/N | 0.1003 | likely_benign | 0.0916 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/P | 0.114 | likely_benign | 0.1028 | benign | None | None | None | None | None | None | N | 0.436651751 | None | None | |
| S/Q | 0.3069 | likely_benign | 0.2781 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/R | 0.2662 | likely_benign | 0.2366 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/T | 0.0886 | likely_benign | 0.0832 | benign | None | None | None | None | None | None | N | 0.469744438 | None | None | |
| S/V | 0.1547 | likely_benign | 0.1388 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/W | 0.1822 | likely_benign | 0.1852 | benign | None | None | None | None | None | None | None | None | None | None | |
| S/Y | 0.0933 | likely_benign | 0.0912 | benign | None | None | None | None | None | None | N | 0.471568668 | None | None |
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.