Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2604 | 8035;8036;8037 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| N2AB | 2604 | 8035;8036;8037 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| N2A | 2604 | 8035;8036;8037 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| N2B | 2558 | 7897;7898;7899 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| Novex-1 | 2558 | 7897;7898;7899 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| Novex-2 | 2558 | 7897;7898;7899 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
| Novex-3 | 2604 | 8035;8036;8037 | chr2:178773154;178773153;178773152 | chr2:179637881;179637880;179637879 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs772001227  |
-3.122 | 0.991 | D | 0.864 | 0.615 | 0.694515167275 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| F/S | rs772001227 |
-3.122 | 0.991 | D | 0.864 | 0.615 | 0.694515167275 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85709E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9405 | likely_pathogenic | 0.9433 | pathogenic | -2.215 | Highly Destabilizing | 0.953 | D | 0.823 | deleterious | None | None | None | None | N |
| F/C | 0.5831 | likely_pathogenic | 0.6132 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.851 | deleterious | N | 0.382063815 | None | None | N |
| F/D | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.148 | Highly Destabilizing | 0.998 | D | 0.881 | deleterious | None | None | None | None | N |
| F/E | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.902 | Highly Destabilizing | 0.998 | D | 0.885 | deleterious | None | None | None | None | N |
| F/G | 0.9857 | likely_pathogenic | 0.9873 | pathogenic | -2.663 | Highly Destabilizing | 0.998 | D | 0.879 | deleterious | None | None | None | None | N |
| F/H | 0.9899 | likely_pathogenic | 0.9894 | pathogenic | -2.074 | Highly Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| F/I | 0.6103 | likely_pathogenic | 0.5892 | pathogenic | -0.736 | Destabilizing | 0.885 | D | 0.661 | neutral | N | 0.443002608 | None | None | N |
| F/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.839 | Destabilizing | 0.993 | D | 0.884 | deleterious | None | None | None | None | N |
| F/L | 0.9494 | likely_pathogenic | 0.9383 | pathogenic | -0.736 | Destabilizing | 0.046 | N | 0.379 | neutral | N | 0.435711974 | None | None | N |
| F/M | 0.8634 | likely_pathogenic | 0.8519 | pathogenic | -0.429 | Destabilizing | 0.986 | D | 0.697 | prob.neutral | None | None | None | None | N |
| F/N | 0.9955 | likely_pathogenic | 0.9956 | pathogenic | -2.591 | Highly Destabilizing | 0.998 | D | 0.882 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.245 | Destabilizing | 0.998 | D | 0.889 | deleterious | None | None | None | None | N |
| F/Q | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -2.286 | Highly Destabilizing | 0.998 | D | 0.887 | deleterious | None | None | None | None | N |
| F/R | 0.9942 | likely_pathogenic | 0.9942 | pathogenic | -1.98 | Destabilizing | 0.993 | D | 0.88 | deleterious | None | None | None | None | N |
| F/S | 0.9801 | likely_pathogenic | 0.9825 | pathogenic | -2.887 | Highly Destabilizing | 0.991 | D | 0.864 | deleterious | D | 0.52885488 | None | None | N |
| F/T | 0.9819 | likely_pathogenic | 0.9828 | pathogenic | -2.512 | Highly Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
| F/V | 0.4999 | ambiguous | 0.4823 | ambiguous | -1.245 | Destabilizing | 0.885 | D | 0.723 | prob.delet. | N | 0.441095964 | None | None | N |
| F/W | 0.9603 | likely_pathogenic | 0.958 | pathogenic | -0.311 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| F/Y | 0.6249 | likely_pathogenic | 0.6041 | pathogenic | -0.7 | Destabilizing | 0.99 | D | 0.61 | neutral | D | 0.52885488 | 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.