Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34109 | 102550;102551;102552 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| N2AB | 32468 | 97627;97628;97629 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| N2A | 31541 | 94846;94847;94848 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| N2B | 25044 | 75355;75356;75357 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| Novex-1 | 25169 | 75730;75731;75732 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| Novex-2 | 25236 | 75931;75932;75933 | chr2:178534290;178534289;178534288 | chr2:179399017;179399016;179399015 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCC
- RefSeq wild type template codon: CGG
- Domain: Kinase-1
- Domain position: 297
- Q(SASA): 0.0616
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs786205293  |
-1.972 | None | N | None | 0.366 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs786205293 |
-1.972 | None | N | None | 0.366 | None | gnomAD-4.0.0 | 4.10524E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 5.03829E-05 | None | 0 | 0 | 0 | 0 | 4.96936E-05 |
| A/V | rs1475114423 |
-0.718 | None | N | None | 0.332 | 0.510700632011 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/V | rs1475114423 |
-0.718 | None | N | None | 0.332 | 0.510700632011 | gnomAD-4.0.0 | 3.18251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41196E-04 | 2.85785E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8029 | likely_pathogenic | 0.7456 | pathogenic | -1.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9588 | likely_pathogenic | 0.9592 | pathogenic | -2.224 | Highly Destabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| A/E | 0.9052 | likely_pathogenic | 0.8996 | pathogenic | -2.164 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.8765 | likely_pathogenic | 0.8476 | pathogenic | -1.163 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3646 | ambiguous | 0.358 | ambiguous | -1.668 | Destabilizing | None | None | None | None | N | 0.455958624 | None | None | N |
| A/H | 0.9383 | likely_pathogenic | 0.9339 | pathogenic | -1.77 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.8805 | likely_pathogenic | 0.8581 | pathogenic | -0.433 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9583 | likely_pathogenic | 0.9585 | pathogenic | -1.526 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.6774 | likely_pathogenic | 0.6247 | pathogenic | -0.433 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.7775 | likely_pathogenic | 0.7514 | pathogenic | -0.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.8885 | likely_pathogenic | 0.8942 | pathogenic | -1.526 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.8782 | likely_pathogenic | 0.8801 | pathogenic | -0.685 | Destabilizing | None | None | None | None | N | 0.458212282 | None | None | N |
| A/Q | 0.8438 | likely_pathogenic | 0.8386 | pathogenic | -1.597 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.897 | likely_pathogenic | 0.8952 | pathogenic | -1.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1978 | likely_benign | 0.2061 | benign | -1.938 | Destabilizing | None | None | None | None | N | 0.456998774 | None | None | N |
| A/T | 0.4592 | ambiguous | 0.4598 | ambiguous | -1.772 | Destabilizing | None | None | None | None | N | 0.45734549 | None | None | N |
| A/V | 0.6375 | likely_pathogenic | 0.6082 | pathogenic | -0.685 | Destabilizing | None | None | None | None | N | 0.457518849 | None | None | N |
| A/W | 0.9795 | likely_pathogenic | 0.9749 | pathogenic | -1.623 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9266 | likely_pathogenic | 0.9137 | pathogenic | -1.202 | 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.