Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33934 | 102025;102026;102027 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| N2AB | 32293 | 97102;97103;97104 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| N2A | 31366 | 94321;94322;94323 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| N2B | 24869 | 74830;74831;74832 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| Novex-1 | 24994 | 75205;75206;75207 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| Novex-2 | 25061 | 75406;75407;75408 | chr2:178534815;178534814;178534813 | chr2:179399542;179399541;179399540 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAT
- RefSeq wild type template codon: TTA
- Domain: Kinase-1
- Domain position: 122
- Q(SASA): 0.2591
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | None | None | None | N | None | 0.121 | 0.0666544352282 | gnomAD-4.0.0 | 1.59831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85816E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4997 | ambiguous | 0.3988 | ambiguous | -0.758 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.4639 | ambiguous | 0.3752 | ambiguous | 0.083 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.2426 | likely_benign | 0.1967 | benign | 0.022 | Stabilizing | None | None | None | None | N | 0.453458957 | None | None | N |
| N/E | 0.6232 | likely_pathogenic | 0.5112 | ambiguous | 0.041 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.8825 | likely_pathogenic | 0.8136 | pathogenic | -0.775 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.3502 | ambiguous | 0.2768 | benign | -1.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.1904 | likely_benign | 0.1585 | benign | -0.805 | Destabilizing | None | None | None | None | N | 0.471391357 | None | None | N |
| N/I | 0.7782 | likely_pathogenic | 0.6515 | pathogenic | -0.153 | Destabilizing | None | None | None | None | N | 0.477763296 | None | None | N |
| N/K | 0.5484 | ambiguous | 0.4143 | ambiguous | -0.08 | Destabilizing | None | None | None | None | N | 0.426637715 | None | None | N |
| N/L | 0.6293 | likely_pathogenic | 0.5061 | ambiguous | -0.153 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.7546 | likely_pathogenic | 0.6505 | pathogenic | 0.264 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9126 | likely_pathogenic | 0.8496 | pathogenic | -0.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.4904 | ambiguous | 0.3897 | ambiguous | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.4794 | ambiguous | 0.3644 | ambiguous | -0.004 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1109 | likely_benign | 0.1015 | benign | -0.567 | Destabilizing | None | None | None | None | N | 0.459384852 | None | None | N |
| N/T | 0.3716 | ambiguous | 0.2838 | benign | -0.375 | Destabilizing | None | None | None | None | N | 0.476749338 | None | None | N |
| N/V | 0.7554 | likely_pathogenic | 0.6372 | pathogenic | -0.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9536 | likely_pathogenic | 0.92 | pathogenic | -0.556 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.464 | ambiguous | 0.364 | ambiguous | -0.368 | Destabilizing | None | None | None | None | N | 0.506024006 | 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.