Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1881 | 5866;5867;5868 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| N2AB | 1881 | 5866;5867;5868 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| N2A | 1881 | 5866;5867;5868 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| N2B | 1835 | 5728;5729;5730 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| Novex-1 | 1835 | 5728;5729;5730 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| Novex-2 | 1835 | 5728;5729;5730 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
| Novex-3 | 1881 | 5866;5867;5868 | chr2:178776223;178776222;178776221 | chr2:179640950;179640949;179640948 |
Information
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 | rs1426496038  |
-2.484 | 1.0 | D | 0.667 | 0.687 | 0.768207998522 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1426496038 |
-2.484 | 1.0 | D | 0.667 | 0.687 | 0.768207998522 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1426496038 |
-2.484 | 1.0 | D | 0.667 | 0.687 | 0.768207998522 | gnomAD-4.0.0 | 1.3143E-05 | None | None | None | None | N | None | 4.82649E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 | 0.9779 | likely_pathogenic | 0.9817 | pathogenic | -2.143 | Highly Destabilizing | 0.999 | D | 0.48 | neutral | None | None | None | None | N |
| I/C | 0.9863 | likely_pathogenic | 0.991 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| I/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| I/E | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| I/F | 0.8845 | likely_pathogenic | 0.9059 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.549062753 | None | None | N |
| I/G | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -2.659 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/H | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| I/K | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| I/L | 0.3783 | ambiguous | 0.397 | ambiguous | -0.643 | Destabilizing | 0.993 | D | 0.426 | neutral | N | 0.458633275 | None | None | N |
| I/M | 0.5754 | likely_pathogenic | 0.5995 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.540949296 | None | None | N |
| I/N | 0.9951 | likely_pathogenic | 0.9959 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.653765547 | None | None | N |
| I/P | 0.9938 | likely_pathogenic | 0.9954 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| I/Q | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| I/R | 0.996 | likely_pathogenic | 0.9961 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| I/S | 0.9904 | likely_pathogenic | 0.9919 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.629497302 | None | None | N |
| I/T | 0.9833 | likely_pathogenic | 0.986 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.686237702 | None | None | N |
| I/V | 0.2654 | likely_benign | 0.31 | benign | -1.126 | Destabilizing | 0.993 | D | 0.397 | neutral | N | 0.507049618 | None | None | N |
| I/W | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| I/Y | 0.9926 | likely_pathogenic | 0.9936 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.751 | deleterious | 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.