Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33999 | 102220;102221;102222 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| N2AB | 32358 | 97297;97298;97299 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| N2A | 31431 | 94516;94517;94518 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| N2B | 24934 | 75025;75026;75027 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| Novex-1 | 25059 | 75400;75401;75402 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| Novex-2 | 25126 | 75601;75602;75603 | chr2:178534620;178534619;178534618 | chr2:179399347;179399346;179399345 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: W
- RefSeq wild type transcript codon: TGG
- RefSeq wild type template codon: ACC
- Domain: Kinase-1
- Domain position: 187
- Q(SASA): 0.0724
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs764821435  |
-2.376 | None | D | None | 0.686 | 0.810813767799 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| W/C | rs764821435 |
-2.376 | None | D | None | 0.686 | 0.810813767799 | gnomAD-4.0.0 | 4.77458E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57726E-06 | 0 | 0 |
| W/R | None | None | None | D | None | 0.712 | 0.806718744816 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/S | None | None | None | D | None | 0.642 | 0.900019912718 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9811 | likely_pathogenic | 0.969 | pathogenic | -4.295 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/C | 0.994 | likely_pathogenic | 0.991 | pathogenic | -2.409 | Highly Destabilizing | None | None | None | None | D | 0.550242082 | None | None | N |
| W/D | 0.9971 | likely_pathogenic | 0.995 | pathogenic | -3.726 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/E | 0.997 | likely_pathogenic | 0.9952 | pathogenic | -3.639 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/F | 0.601 | likely_pathogenic | 0.5309 | ambiguous | -2.808 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/G | 0.9614 | likely_pathogenic | 0.9381 | pathogenic | -4.454 | Highly Destabilizing | None | None | None | None | D | 0.550242082 | None | None | N |
| W/H | 0.9892 | likely_pathogenic | 0.9834 | pathogenic | -3.251 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/I | 0.9757 | likely_pathogenic | 0.9643 | pathogenic | -3.622 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/K | 0.9991 | likely_pathogenic | 0.9982 | pathogenic | -2.931 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/L | 0.9014 | likely_pathogenic | 0.8691 | pathogenic | -3.622 | Highly Destabilizing | None | None | None | None | D | 0.549988593 | None | None | N |
| W/M | 0.9825 | likely_pathogenic | 0.9752 | pathogenic | -3.004 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/N | 0.9966 | likely_pathogenic | 0.9942 | pathogenic | -3.272 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/P | 0.9973 | likely_pathogenic | 0.9956 | pathogenic | -3.876 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Q | 0.9983 | likely_pathogenic | 0.9972 | pathogenic | -3.289 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/R | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -2.312 | Highly Destabilizing | None | None | None | None | D | 0.550242082 | None | None | N |
| W/S | 0.9825 | likely_pathogenic | 0.9707 | pathogenic | -3.539 | Highly Destabilizing | None | None | None | None | D | 0.550242082 | None | None | N |
| W/T | 0.9885 | likely_pathogenic | 0.9819 | pathogenic | -3.394 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/V | 0.9714 | likely_pathogenic | 0.9571 | pathogenic | -3.876 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| W/Y | 0.8584 | likely_pathogenic | 0.8102 | pathogenic | -2.67 | 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.