Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33918 | 101977;101978;101979 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| N2AB | 32277 | 97054;97055;97056 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| N2A | 31350 | 94273;94274;94275 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| N2B | 24853 | 74782;74783;74784 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| Novex-1 | 24978 | 75157;75158;75159 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| Novex-2 | 25045 | 75358;75359;75360 | chr2:178534863;178534862;178534861 | chr2:179399590;179399589;179399588 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGT
- RefSeq wild type template codon: TCA
- Domain: Kinase-1
- Domain position: 106
- Q(SASA): 0.1844
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1363833448  |
-1.14 | None | N | None | 0.163 | 0.256793551483 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1363833448 |
-1.14 | None | N | None | 0.163 | 0.256793551483 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1363833448 |
-1.14 | None | N | None | 0.163 | 0.256793551483 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs952080555 |
-0.686 | None | N | None | 0.276 | 0.110078149338 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs952080555 |
-0.686 | None | N | None | 0.276 | 0.110078149338 | gnomAD-4.0.0 | 3.20916E-06 | None | None | None | None | N | None | 0 | 4.5731E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1316 | likely_benign | 0.1145 | benign | -0.576 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1622 | likely_benign | 0.1493 | benign | -0.388 | Destabilizing | None | None | None | None | N | 0.481590574 | None | None | N |
| S/D | 0.3508 | ambiguous | 0.2987 | benign | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.4923 | ambiguous | 0.4512 | ambiguous | -0.689 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.4671 | ambiguous | 0.38 | ambiguous | -0.612 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1437 | likely_benign | 0.1135 | benign | -0.905 | Destabilizing | None | None | None | None | N | 0.437319722 | None | None | N |
| S/H | 0.2756 | likely_benign | 0.2384 | benign | -1.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.3411 | ambiguous | 0.2829 | benign | 0.207 | Stabilizing | None | None | None | None | N | 0.448363435 | None | None | N |
| S/K | 0.5795 | likely_pathogenic | 0.5191 | ambiguous | -0.678 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.2426 | likely_benign | 0.2008 | benign | 0.207 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.3605 | ambiguous | 0.3315 | benign | 0.418 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1505 | likely_benign | 0.1173 | benign | -0.93 | Destabilizing | None | None | None | None | N | 0.421022118 | None | None | N |
| S/P | 0.8699 | likely_pathogenic | 0.8378 | pathogenic | -0.017 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.4129 | ambiguous | 0.3901 | ambiguous | -0.889 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.4685 | ambiguous | 0.3933 | ambiguous | -0.832 | Destabilizing | None | None | None | None | N | 0.426774654 | None | None | N |
| S/T | 0.1471 | likely_benign | 0.1259 | benign | -0.731 | Destabilizing | None | None | None | None | N | 0.436183571 | None | None | N |
| S/V | 0.3745 | ambiguous | 0.3215 | benign | -0.017 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.5537 | ambiguous | 0.4653 | ambiguous | -0.765 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.2685 | likely_benign | 0.2219 | benign | -0.413 | 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.