Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33888 | 101887;101888;101889 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| N2AB | 32247 | 96964;96965;96966 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| N2A | 31320 | 94183;94184;94185 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| N2B | 24823 | 74692;74693;74694 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| Novex-1 | 24948 | 75067;75068;75069 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| Novex-2 | 25015 | 75268;75269;75270 | chr2:178534953;178534952;178534951 | chr2:179399680;179399679;179399678 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: TTA
- RefSeq wild type template codon: AAT
- Domain: Kinase-1
- Domain position: 76
- Q(SASA): 0.103
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs549890031  |
-3.429 | None | N | None | 0.646 | 0.830211817645 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11508E-04 | None | 0 | None | 0 | 0 | 0 |
| L/S | rs549890031 |
-3.429 | None | N | None | 0.646 | 0.830211817645 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | rs549890031 |
-3.429 | None | N | None | 0.646 | 0.830211817645 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| L/S | rs549890031 |
-3.429 | None | N | None | 0.646 | 0.830211817645 | gnomAD-4.0.0 | 1.86014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45792E-05 | None | 0 | 0 | 0 | 0 | 1.60087E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6182 | likely_pathogenic | 0.7193 | pathogenic | -2.496 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.7485 | likely_pathogenic | 0.8487 | pathogenic | -2.225 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9554 | likely_pathogenic | 0.983 | pathogenic | -3.154 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.8339 | likely_pathogenic | 0.9213 | pathogenic | -3.022 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.3262 | likely_benign | 0.5794 | pathogenic | -1.547 | Destabilizing | None | None | None | None | N | 0.513628421 | None | None | N |
| L/G | 0.9067 | likely_pathogenic | 0.9572 | pathogenic | -2.939 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.6764 | likely_pathogenic | 0.8843 | pathogenic | -2.221 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.1703 | likely_benign | 0.1776 | benign | -1.252 | Destabilizing | None | None | None | None | N | 0.493077004 | None | None | N |
| L/K | 0.7348 | likely_pathogenic | 0.8749 | pathogenic | -1.971 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.1808 | likely_benign | 0.2217 | benign | -1.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.7809 | likely_pathogenic | 0.9147 | pathogenic | -2.184 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9849 | likely_pathogenic | 0.9907 | pathogenic | -1.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.6384 | likely_pathogenic | 0.8165 | pathogenic | -2.226 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.6836 | likely_pathogenic | 0.8448 | pathogenic | -1.488 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.7707 | likely_pathogenic | 0.9042 | pathogenic | -2.781 | Highly Destabilizing | None | None | None | None | N | 0.508346623 | None | None | N |
| L/T | 0.525 | ambiguous | 0.6424 | pathogenic | -2.524 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2041 | likely_benign | 0.2162 | benign | -1.645 | Destabilizing | None | None | None | None | N | 0.496984101 | None | None | N |
| L/W | 0.5594 | ambiguous | 0.8355 | pathogenic | -1.826 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.5255 | ambiguous | 0.8497 | pathogenic | -1.601 | 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.