Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33866 | 101821;101822;101823 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| N2AB | 32225 | 96898;96899;96900 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| N2A | 31298 | 94117;94118;94119 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| N2B | 24801 | 74626;74627;74628 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| Novex-1 | 24926 | 75001;75002;75003 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| Novex-2 | 24993 | 75202;75203;75204 | chr2:178535019;178535018;178535017 | chr2:179399746;179399745;179399744 |
| 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: 54
- Q(SASA): 0.1726
- 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/V | None | None | None | N | None | 0.173 | 0.546087423956 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8578E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5793 | likely_pathogenic | 0.6944 | pathogenic | -2.389 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8499 | likely_pathogenic | 0.8897 | pathogenic | -1.792 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9427 | likely_pathogenic | 0.9671 | pathogenic | -2.342 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9045 | likely_pathogenic | 0.9386 | pathogenic | -2.2 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.3873 | ambiguous | 0.4456 | ambiguous | -1.592 | Destabilizing | None | None | None | None | N | 0.502763989 | None | None | N |
| I/G | 0.9202 | likely_pathogenic | 0.9499 | pathogenic | -2.876 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.8369 | likely_pathogenic | 0.8975 | pathogenic | -2.297 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.8157 | likely_pathogenic | 0.8903 | pathogenic | -1.85 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1934 | likely_benign | 0.2334 | benign | -1.027 | Destabilizing | None | None | None | None | N | 0.509969254 | None | None | N |
| I/M | 0.2005 | likely_benign | 0.2657 | benign | -0.885 | Destabilizing | None | None | None | None | N | 0.496256302 | None | None | N |
| I/N | 0.6096 | likely_pathogenic | 0.7484 | pathogenic | -1.967 | Destabilizing | None | None | None | None | D | 0.527211346 | None | None | N |
| I/P | 0.9842 | likely_pathogenic | 0.9767 | pathogenic | -1.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.821 | likely_pathogenic | 0.8882 | pathogenic | -1.95 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.7302 | likely_pathogenic | 0.8278 | pathogenic | -1.432 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.6133 | likely_pathogenic | 0.7083 | pathogenic | -2.687 | Highly Destabilizing | None | None | None | None | N | 0.493698635 | None | None | N |
| I/T | 0.3969 | ambiguous | 0.5822 | pathogenic | -2.403 | Highly Destabilizing | None | None | None | None | N | 0.494610461 | None | None | N |
| I/V | 0.102 | likely_benign | 0.1284 | benign | -1.456 | Destabilizing | None | None | None | None | N | 0.488073829 | None | None | N |
| I/W | 0.9542 | likely_pathogenic | 0.9665 | pathogenic | -1.892 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8044 | likely_pathogenic | 0.8256 | pathogenic | -1.621 | 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.