Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33940 | 102043;102044;102045 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| N2AB | 32299 | 97120;97121;97122 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| N2A | 31372 | 94339;94340;94341 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| N2B | 24875 | 74848;74849;74850 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| Novex-1 | 25000 | 75223;75224;75225 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| Novex-2 | 25067 | 75424;75425;75426 | chr2:178534797;178534796;178534795 | chr2:179399524;179399523;179399522 |
| 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: 128
- Q(SASA): 0.1433
- 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/T | rs184789288  |
-3.496 | None | N | None | 0.577 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs184789288 |
-3.496 | None | N | None | 0.577 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/T | rs184789288 |
-3.496 | None | N | None | 0.577 | None | gnomAD-4.0.0 | 6.56694E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1354041065 |
-1.978 | None | N | None | 0.243 | 0.430010490656 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/V | rs1354041065 |
-1.978 | None | N | None | 0.243 | 0.430010490656 | gnomAD-4.0.0 | 1.59572E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41313E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9534 | likely_pathogenic | 0.9435 | pathogenic | -3.116 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9655 | likely_pathogenic | 0.9572 | pathogenic | -2.47 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | -3.683 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.989 | likely_pathogenic | 0.9876 | pathogenic | -3.425 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.656 | likely_pathogenic | 0.589 | pathogenic | -1.923 | Destabilizing | None | None | None | None | N | 0.4915465 | None | None | N |
| I/G | 0.9925 | likely_pathogenic | 0.9906 | pathogenic | -3.701 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9886 | likely_pathogenic | 0.9846 | pathogenic | -3.127 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9796 | likely_pathogenic | 0.9753 | pathogenic | -2.569 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.3097 | likely_benign | 0.2638 | benign | -1.383 | Destabilizing | None | None | None | None | N | 0.38747632 | None | None | N |
| I/M | 0.3758 | ambiguous | 0.3316 | benign | -1.313 | Destabilizing | None | None | None | None | N | 0.477303359 | None | None | N |
| I/N | 0.9545 | likely_pathogenic | 0.9445 | pathogenic | -3.031 | Highly Destabilizing | None | None | None | None | N | 0.499143824 | None | None | N |
| I/P | 0.9888 | likely_pathogenic | 0.9854 | pathogenic | -1.947 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9827 | likely_pathogenic | 0.979 | pathogenic | -2.851 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.9705 | likely_pathogenic | 0.9636 | pathogenic | -2.236 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.9513 | likely_pathogenic | 0.9413 | pathogenic | -3.72 | Highly Destabilizing | None | None | None | None | N | 0.510500129 | None | None | N |
| I/T | 0.9258 | likely_pathogenic | 0.9079 | pathogenic | -3.309 | Highly Destabilizing | None | None | None | None | N | 0.51024664 | None | None | N |
| I/V | 0.2583 | likely_benign | 0.2169 | benign | -1.947 | Destabilizing | None | None | None | None | N | 0.494791079 | None | None | N |
| I/W | 0.9892 | likely_pathogenic | 0.9859 | pathogenic | -2.361 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9495 | likely_pathogenic | 0.9419 | pathogenic | -2.153 | Highly 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.