Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33912 | 101959;101960;101961 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| N2AB | 32271 | 97036;97037;97038 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| N2A | 31344 | 94255;94256;94257 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| N2B | 24847 | 74764;74765;74766 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| Novex-1 | 24972 | 75139;75140;75141 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| Novex-2 | 25039 | 75340;75341;75342 | chr2:178534881;178534880;178534879 | chr2:179399608;179399607;179399606 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAT
- RefSeq wild type template codon: TTA
- Domain: Kinase-1
- Domain position: 100
- Q(SASA): 0.1323
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs1436628843  |
-1.555 | None | N | None | 0.085 | 0.0551355673512 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs1436628843 |
-1.555 | None | N | None | 0.085 | 0.0551355673512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| N/S | rs1436628843 |
-1.555 | None | N | None | 0.085 | 0.0551355673512 | gnomAD-4.0.0 | 2.5788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.67996E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5775 | likely_pathogenic | 0.5062 | ambiguous | -1.28 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.4875 | ambiguous | 0.4054 | ambiguous | -0.651 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.2577 | likely_benign | 0.2167 | benign | -1.798 | Destabilizing | None | None | None | None | N | 0.43739064 | None | None | N |
| N/E | 0.6925 | likely_pathogenic | 0.6782 | pathogenic | -1.58 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9264 | likely_pathogenic | 0.9109 | pathogenic | -0.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.4683 | ambiguous | 0.3965 | ambiguous | -1.676 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.2757 | likely_benign | 0.2497 | benign | -1.152 | Destabilizing | None | None | None | None | N | 0.515776852 | None | None | N |
| N/I | 0.7835 | likely_pathogenic | 0.7628 | pathogenic | -0.223 | Destabilizing | None | None | None | None | N | 0.510197674 | None | None | N |
| N/K | 0.6419 | likely_pathogenic | 0.5841 | pathogenic | -0.457 | Destabilizing | None | None | None | None | N | 0.462481085 | None | None | N |
| N/L | 0.6299 | likely_pathogenic | 0.6011 | pathogenic | -0.223 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.7263 | likely_pathogenic | 0.6978 | pathogenic | 0.043 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.7888 | likely_pathogenic | 0.7568 | pathogenic | -0.548 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.6564 | likely_pathogenic | 0.6082 | pathogenic | -1.179 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.6399 | likely_pathogenic | 0.5667 | pathogenic | -0.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1078 | likely_benign | 0.0942 | benign | -1.447 | Destabilizing | None | None | None | None | N | 0.371915009 | None | None | N |
| N/T | 0.1354 | likely_benign | 0.1258 | benign | -1.035 | Destabilizing | None | None | None | None | N | 0.399949759 | None | None | N |
| N/V | 0.7226 | likely_pathogenic | 0.6913 | pathogenic | -0.548 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9617 | likely_pathogenic | 0.9488 | pathogenic | -0.634 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.6042 | likely_pathogenic | 0.5511 | ambiguous | -0.335 | Destabilizing | None | None | None | None | N | 0.457706804 | 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.