Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34133 | 102622;102623;102624 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| N2AB | 32492 | 97699;97700;97701 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| N2A | 31565 | 94918;94919;94920 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| N2B | 25068 | 75427;75428;75429 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| Novex-1 | 25193 | 75802;75803;75804 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| Novex-2 | 25260 | 76003;76004;76005 | chr2:178534218;178534217;178534216 | chr2:179398945;179398944;179398943 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 321
- Q(SASA): 1.173
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1328046092  |
-0.232 | None | N | None | 0.096 | 0.402043589563 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs1328046092 |
-0.232 | None | N | None | 0.096 | 0.402043589563 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1328046092 |
-0.232 | None | N | None | 0.096 | 0.402043589563 | gnomAD-4.0.0 | 2.47856E-06 | None | None | None | None | N | None | 0 | 3.334E-05 | None | 0 | 0 | None | 0 | 0 | 8.47558E-07 | 0 | 1.60092E-05 |
| I/T | rs764179161 |
-0.356 | None | N | None | 0.19 | 0.545130385147 | gnomAD-2.1.1 | 3.92E-05 | None | None | None | None | N | None | 2.06629E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.9E-05 | 0 |
| I/T | rs764179161 |
-0.356 | None | N | None | 0.19 | 0.545130385147 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.68894E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs764179161 |
-0.356 | None | N | None | 0.19 | 0.545130385147 | gnomAD-4.0.0 | 4.2136E-05 | None | None | None | None | N | None | 1.60175E-04 | 1.66678E-05 | None | 0 | 0 | None | 1.56235E-05 | 0 | 4.57683E-05 | 0 | 0 |
| I/V | None | None | None | N | None | 0.108 | 0.339555952218 | gnomAD-4.0.0 | 6.84155E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99412E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2979 | likely_benign | 0.2998 | benign | -0.427 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8777 | likely_pathogenic | 0.866 | pathogenic | -0.746 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.7643 | likely_pathogenic | 0.7092 | pathogenic | -0.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.5918 | likely_pathogenic | 0.5337 | ambiguous | -0.366 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.2033 | likely_benign | 0.2308 | benign | -0.631 | Destabilizing | None | None | None | None | N | 0.426502508 | None | None | N |
| I/G | 0.7291 | likely_pathogenic | 0.7195 | pathogenic | -0.518 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.6743 | likely_pathogenic | 0.6307 | pathogenic | 0.066 | Stabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.462 | ambiguous | 0.363 | ambiguous | -0.329 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1407 | likely_benign | 0.1481 | benign | -0.303 | Destabilizing | None | None | None | None | N | 0.425635717 | None | None | N |
| I/M | 0.1176 | likely_benign | 0.1209 | benign | -0.621 | Destabilizing | None | None | None | None | N | 0.426849225 | None | None | N |
| I/N | 0.4577 | ambiguous | 0.3819 | ambiguous | -0.175 | Destabilizing | None | None | None | None | N | 0.426849225 | None | None | N |
| I/P | 0.5871 | likely_pathogenic | 0.5454 | ambiguous | -0.317 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.5215 | ambiguous | 0.4741 | ambiguous | -0.346 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.3531 | ambiguous | 0.2941 | benign | 0.1 | Stabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.3665 | ambiguous | 0.3322 | benign | -0.53 | Destabilizing | None | None | None | None | N | 0.42632915 | None | None | N |
| I/T | 0.1954 | likely_benign | 0.1953 | benign | -0.524 | Destabilizing | None | None | None | None | N | 0.42632915 | None | None | N |
| I/V | 0.086 | likely_benign | 0.0934 | benign | -0.317 | Destabilizing | None | None | None | None | N | 0.425289 | None | None | N |
| I/W | 0.7842 | likely_pathogenic | 0.8281 | pathogenic | -0.661 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.6291 | likely_pathogenic | 0.6248 | pathogenic | -0.423 | 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.