Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34131 | 102616;102617;102618 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| N2AB | 32490 | 97693;97694;97695 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| N2A | 31563 | 94912;94913;94914 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| N2B | 25066 | 75421;75422;75423 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| Novex-1 | 25191 | 75796;75797;75798 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| Novex-2 | 25258 | 75997;75998;75999 | chr2:178534224;178534223;178534222 | chr2:179398951;179398950;179398949 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCA
- RefSeq wild type template codon: CGT
- Domain: Kinase-1
- Domain position: 319
- Q(SASA): 0.3866
- 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 | None | None | None | N | None | 0.219 | 0.408444019923 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.8075 | likely_pathogenic | 0.7869 | pathogenic | -0.986 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.6357 | likely_pathogenic | 0.6392 | pathogenic | -1.135 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.6324 | likely_pathogenic | 0.6429 | pathogenic | -1.218 | Destabilizing | None | None | None | None | N | 0.444048119 | None | None | N |
| A/F | 0.7716 | likely_pathogenic | 0.7583 | pathogenic | -1.169 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.2398 | likely_benign | 0.2462 | benign | -1.103 | Destabilizing | None | None | None | None | N | 0.427195942 | None | None | N |
| A/H | 0.8187 | likely_pathogenic | 0.8088 | pathogenic | -1.19 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7628 | likely_pathogenic | 0.8322 | pathogenic | -0.597 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.8311 | likely_pathogenic | 0.8332 | pathogenic | -1.147 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.5402 | ambiguous | 0.5798 | pathogenic | -0.597 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.6526 | likely_pathogenic | 0.7054 | pathogenic | -0.511 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.5912 | likely_pathogenic | 0.6112 | pathogenic | -0.823 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.6947 | likely_pathogenic | 0.6693 | pathogenic | -0.667 | Destabilizing | None | None | None | None | N | 0.446301777 | None | None | N |
| A/Q | 0.6407 | likely_pathogenic | 0.6501 | pathogenic | -1.08 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.734 | likely_pathogenic | 0.7177 | pathogenic | -0.74 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1276 | likely_benign | 0.1428 | benign | -1.123 | Destabilizing | None | None | None | None | N | 0.444741552 | None | None | N |
| A/T | 0.2558 | likely_benign | 0.3227 | benign | -1.128 | Destabilizing | None | None | None | None | N | 0.445434986 | None | None | N |
| A/V | 0.4747 | ambiguous | 0.5647 | pathogenic | -0.667 | Destabilizing | None | None | None | None | N | 0.445955061 | None | None | N |
| A/W | 0.9657 | likely_pathogenic | 0.9583 | pathogenic | -1.376 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.8496 | likely_pathogenic | 0.8421 | pathogenic | -1.031 | 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.