Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1874 | 5845;5846;5847 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| N2AB | 1874 | 5845;5846;5847 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| N2A | 1874 | 5845;5846;5847 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| N2B | 1828 | 5707;5708;5709 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| Novex-1 | 1828 | 5707;5708;5709 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| Novex-2 | 1828 | 5707;5708;5709 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
| Novex-3 | 1874 | 5845;5846;5847 | chr2:178776244;178776243;178776242 | chr2:179640971;179640970;179640969 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs2092211950  |
None | 1.0 | D | 0.779 | 0.964 | 0.92289228119 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs2092211950 |
None | 1.0 | D | 0.779 | 0.964 | 0.92289228119 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.831 | 0.956 | 0.936407739719 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.813 | 0.954 | 0.964158111835 | gnomAD-4.0.0 | 3.18105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-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 | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -3.477 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/C | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.75107437 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.778 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.658 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/F | 0.6588 | likely_pathogenic | 0.6761 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/G | 0.9911 | likely_pathogenic | 0.9907 | pathogenic | -3.72 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.75112 | None | None | N |
| W/H | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/I | 0.9853 | likely_pathogenic | 0.9863 | pathogenic | -2.532 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.034 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/L | 0.963 | likely_pathogenic | 0.9635 | pathogenic | -2.532 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.70602907 | None | None | N |
| W/M | 0.9947 | likely_pathogenic | 0.9949 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.773 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.575 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.75107437 | None | None | N |
| W/S | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -3.892 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.75107437 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/V | 0.9869 | likely_pathogenic | 0.9881 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/Y | 0.9115 | likely_pathogenic | 0.9185 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.792 | 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.